Genetic background effects on dental and other craniofacial abnormalities in homozygous small eye ( Pax6 Sey /Pax6 Sey ) mice

1997 ◽  
Vol 196 (4) ◽  
pp. 311-321 ◽  
Author(s):  
Jane C. Quinn ◽  
John D. West ◽  
M. H. Kaufman
Keyword(s):  
Genetic Background ◽  
Craniofacial Abnormalities ◽  
Genetic Background Effects

scholarly journals Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice

2012 ◽  
Vol 283 (1-2) ◽  
pp. 80-88 ◽  
Author(s):  
Kelly L. Kane ◽  
Chantal M. Longo-Guess ◽  
Leona H. Gagnon ◽  
Dalian Ding ◽  
Richard J. Salvi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Background ◽  
Age Related ◽  
Genetic Background Effects ◽  
Age Related Hearing Loss

scholarly journals ATR-16 syndrome: mechanisms linking monosomy to phenotype

2020 ◽  
Vol 57 (6) ◽  
pp. 414-421 ◽  
Author(s):  
Christian Babbs ◽  
Jill Brown ◽  
Sharon W Horsley ◽  
Joanne Slater ◽  
Evie Maifoshie ◽  
...  
Keyword(s):  
Genetic Background ◽  
Position Effect ◽  
Distal Region ◽  
Chromosome 16 ◽  
Developmental Abnormalities ◽  
Telomere Position Effect ◽  
Contiguous Gene ◽  
Wide Range ◽  
Genetic Background Effects ◽  
Critical Regions

BackgroundDeletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an individual’s clinical phenotype is challenging.MethodsHere, as an example of this common phenomenon, we analysed 41 patients with simple deletions of ~177 to ~2000 kb affecting one allele of the well-characterised, gene dense, distal region of chromosome 16 (16p13.3), referred to as ATR-16 syndrome. We characterised deletion extents and screened for genetic background effects, telomere position effect and compensatory upregulation of hemizygous genes.ResultsWe find the risk of developmental and neurological abnormalities arises from much smaller distal chromosome 16 deletions (~400 kb) than previously reported. Beyond this, the severity of ATR-16 syndrome increases with deletion size, but there is no evidence that critical regions determine the developmental abnormalities associated with this disorder. Surprisingly, we find no evidence of telomere position effect or compensatory upregulation of hemizygous genes; however, genetic background effects substantially modify phenotypic abnormalities.ConclusionsUsing ATR-16 as a general model of disorders caused by CNVs, we show the degree to which individuals with contiguous gene syndromes are affected is not simply related to the number of genes deleted but depends on their genetic background. We also show there is no critical region defining the degree of phenotypic abnormalities in ATR-16 syndrome and this has important implications for genetic counselling.

Influence of genetic background and gender on hypertension and renal failure in COX-2-deficient mice

2005 ◽  
Vol 288 (6) ◽  
pp. F1125-F1132 ◽  
Author(s):  
Tianxin Yang ◽  
Yuning G. Huang ◽  
Wenling Ye ◽  
Pernille Hansen ◽  
Jurgen B. Schnermann ◽  
...  
Keyword(s):  
Renal Failure ◽  
Knockout Mice ◽  
Genetic Background ◽  
Inflammatory Cells ◽  
Inbred Strains ◽  
Cox 2 ◽  
And Gender ◽  
Genetic Background Effects ◽  
Deficient Mice ◽  
Nephrogenic Zone

The present study was undertaken to determine whether the severity of renal failure or hypertension in homozygous cyclooxygenase (COX)-2-deficient (COX-2−/−) mice affected by genetic background or gender. COX-2 deletion was introduced into three congenic genetic backgrounds, 129/Sv (129/COX-2−/−), C57/BL6 (C57/COX-2−/−), and BALB/c (BALB/COX-2−/−), by backcrossing the original mixed-background knockout mice with the respective inbred strains for 9 or 10 generations. Evaluation of the severity of hypertension and renal failure was performed in knockout and wild-type mice at the age of 2.5–3.5 mo. Blood pressure measured by tail-cuff plethysmography was significantly elevated in the male 129/COX-2−/− mice (165.8 ± 9.2 vs. 116 ± 5.1 mmHg, P < 0.05), and to a much lesser extent in the female 129/COX-2−/− mice (127.4 ± 3.3 vs. 102.4 ± 3.3), whereas it was unchanged in the C57- or BALB/COX-2−/− mice regardless of gender. Urinary excretion of albumin, determined by EIA, was remarkably increased in the 129/COX-2−/− (16.4 ± 4.1 vs. 0.16 ± 0.043 mg albumin/mg creatinine, P < 0.001), and to a lesser extent in the male C57/COX-2−/− mice (0.595 ± 0.416 vs. 0.068 ± 0.019). Albumin excretion was not elevated in the male BALB/COX-2−/− or in female COX-2−/− mice on any of the three genetic backgrounds. Histological analysis showed abundant protein casts, dilated tubules, and infiltration of inflammatory cells in the male 129/COX-2−/− mice, but not in COX-2−/− mice in other strains or gender. However, the presence of small glomeruli in the nephrogenic zone was observed in all strains of COX-2 knockout mice, regardless of genetic background and gender. Therefore, we conclude that the severity of hypertension and renal failure in COX-2-deficient mice is influenced by genetic background and gender, whereas the incomplete maturation of outer cortical nephrons appears to be independent of genetic background effects.

scholarly journals Genetic background effects in Neuroligin-3 mutant mice: Minimal behavioral abnormalities on C57 background

2017 ◽  
Vol 11 (2) ◽  
pp. 234-244 ◽  
Author(s):  
Thomas C. Jaramillo ◽  
Christine Ochoa Escamilla ◽  
Shunan Liu ◽  
Lauren Peca ◽  
Shari G. Birnbaum ◽  
...  
Keyword(s):  
Genetic Background ◽  
Mutant Mice ◽  
Behavioral Abnormalities ◽  
Genetic Background Effects

scholarly journals ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

2019 ◽  
Author(s):  
Christian Babbs ◽  
Jill Brown ◽  
Sharon W. Horsley ◽  
Joanne Slater ◽  
Evie Maifoshie ◽  
...  
Keyword(s):  
Genetic Background ◽  
Position Effect ◽  
Distal Region ◽  
Copy Number Variations ◽  
Chromosome 16 ◽  
Developmental Abnormalities ◽  
Telomere Position Effect ◽  
Wide Range ◽  
Genetic Background Effects ◽  
Critical Regions

AbstractBackgroundSporadic deletions removing 100s-1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an individual’s clinical phenotype is challenging.MethodsHere, as an example of this common phenomenon, we analysed 34 patients with simple deletions of ∼177 to ∼2000 kb affecting one allele of the well characterised, gene dense, distal region of chromosome 16 (16p13.3), referred to as ATR-16 syndrome. We characterised precise deletion extent and screened for genetic background effects, telomere position effect and compensatory up regulation of hemizygous genes.ResultsWe find the risk of developmental and neurological abnormalities arises from much smaller terminal chromosome 16 deletions (∼400 kb) than previously reported. Beyond this, the severity of ATR-16 syndrome increases with deletion size, but there is no evidence that critical regions determine the developmental abnormalities associated with this disorder. Surprisingly, we find no evidence of telomere position effect or compensatory upregulation of hemizygous genes, however, genetic background effects substantially modify phenotypic abnormalities.ConclusionsUsing ATR-16 as a general model of disorders caused by sporadic copy number variations, we show the degree to which individuals with contiguous gene syndromes are affected is not simply related to the number of genes deleted but also depends on their genetic background. We also show there is no critical region defining the degree of phenotypic abnormalities in ATR-16 syndrome and this has important implications for genetic counselling.

scholarly journals Mouse ζ- and α-Globin Genes: Embryonic Survival, α-Thalassemia, and Genetic Background Effects

Blood ◽  
1997 ◽  
Vol 90 (3) ◽  
pp. 1275-1282 ◽  
Author(s):  
Aya Leder ◽  
Cathie Daugherty ◽  
Barry Whitney ◽  
Philip Leder
Keyword(s):  
Fetal Development ◽  
Genetic Background ◽  
Strong Influence ◽  
Globin Gene ◽  
Embryonic Stem ◽  
Null Mutation ◽  
Globin Genes ◽  
Outbred Mice ◽  
Genetic Background Effects

Abstract A classical notion regarding the expression of murine embryonic ζ- and adult α-globin genes holds that there is a switch in globin production from the embryonic to the adult form during fetal development. Our previous in situ hybridization studies challenged this view, since both ζ- and α-globin mRNAs can be detected simultaneously in the earliest erythrocyte populations. This finding raises the possibility that ζ-globin production might be wholly or partially redundant in embryos in which the adult α-globin is also expressed. To test this possibility, we created a null mutation of the ζ-globin gene using homologous recombination in embryonic stem cells. Many outbred mice homozygous for the ζ-null mutation were able to develop normally, undermining the notion that there is an absolute need for ζ-globin and indicating that α-globin alone can serve the survival needs of the fetus. Interestingly, insertion of the PGK-Neo cassette (used to create the null mutation) into the ζ-globin gene appears to influence the expression of the nearby α-globin genes, giving rise to reduced α-globin production and to an α-thalassemia–like syndrome. There is also evidence indicating the strong influence of genetic background on the ζ-null and α1-null phenotypes, both of which are much more severe in the 129/SvEv inbred genetic background. These quantitative differences can potentially be exploited to identify genes important for erythropoiesis.

scholarly journals Incomplete transfer of accessory loci influencingSbMATEexpression underlies genetic background effects for aluminum tolerance in sorghum

2012 ◽  
Vol 73 (2) ◽  
pp. 276-288 ◽  
Author(s):  
Janaina O. Melo ◽  
Ubiraci G. P. Lana ◽  
Miguel A. Piñeros ◽  
Vera M. C. Alves ◽  
Claudia T. Guimarães ◽  
...  
Keyword(s):  
Genetic Background ◽  
Aluminum Tolerance ◽  
Genetic Background Effects
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