Inheritance of hyperbilirubinemia: Evidence for a major autosomal recessive gene

2007 ◽  
Vol 39 (4) ◽  
pp. 351-355 ◽  
Author(s):  
M. Clementi ◽  
E. Di Gianantonio ◽  
L. Fabris ◽  
P. Forabosco ◽  
M. Strazzabosco ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Gene ◽  
Autosomal Recessive Gene

Fetal anasarca (hydrops foetalis) associated with lymphoid tissue agenesis possibly due to an autosomal recessive gene defect in sheep

2002 ◽  
Vol 58 (6) ◽  
pp. 1219-1228 ◽  
Author(s):  
L Monteagudo ◽  
L Luján ◽  
T Tejedor ◽  
S Climent ◽  
C Acı́n ◽  
...  
Keyword(s):  
Lymphoid Tissue ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Gene Defect ◽  
Autosomal Recessive Gene

Inheritance of congenital goitre due to a thyroid defection in Merino sheep

1969 ◽  
Vol 20 (3) ◽  
pp. 533 ◽  
Author(s):  
GME Mayo ◽  
CJ Mulhern
Keyword(s):  
Autosomal Recessive ◽  
South Australia ◽  
Recessive Gene ◽  
Merino Sheep ◽  
Variable Expressivity ◽  
Biochemical Studies ◽  
High Penetrance ◽  
Autosomal Recessive Gene

An analysis of data from 599 Merino sheep has provided clear evidence that a condition of goitre, existing on 26 properties spread throughout the more closely settled parts of South Australia, is simply inherited. It is suggested that the condition is due to the action of an autosomal recessive gene whose action shows high penetrance and variable expressivity, and is accompanied by manifold phenotypic effects themselves equally variable in expression. This suggestion accords well with biochemical studies of goitrous sheep taken from among this sample. This study is continuing.

Hereditary hepatitis of LEC rats is controlled by a single autosomal recessive gene

1988 ◽  
Vol 22 (2) ◽  
pp. 166-169 ◽  
Author(s):  
R. Masuda ◽  
M. C. Yoshida ◽  
M. Sasaki ◽  
K. Dempo ◽  
M. Mori
Keyword(s):  
Autosomal Recessive ◽  
Recessive Gene ◽  
Histological Features ◽  
Hepatocellular Carcinomas ◽  
History Of ◽  
Preneoplastic Foci ◽  
Lec Rats ◽  
Autosomal Recessive Gene ◽  
Hepatic Lesions ◽  
One Year

The natural history of hereditary hepatitis in long-survived LEC rats was reported. Among 56 (female: male, 28:28) LEC rats of F30, 16 (8:8) (29%) died of fulminant hepatitis approximately four months after birth. The remaining 40 (20:20) rats that survived more than one year developed chronic hepatitis and subsequent hepatic lesions including hepatocellular carcinomas. Further study made with 32 F31 rats killed at the age of five months revealed that hepatitis occurred in all of these rats. Genetic analysis performed by various crosses of LEC and LEJ rats confirmed the previous result that hereditary hepatitis was caused by a single autosomal recessive gene. F1 hybrid rats never developed hepatitis, showing normal histology of the liver. Histological features of hepatitis in F2 (F1×1) and backcross (F1×LEC) rats were the same as those observed in the LEC rats. The preneoplastic foci also appeared in some of these hybrid rats at the age of eight months. We propose a gene symbol hts to designate the present hepatitis which is assumed to be homozygous in LEC strain rats.

scholarly journals Genetic studies of a new mutant strain showing shivering in the mouse

1996 ◽  
Vol 30 (4) ◽  
pp. 365-368
Author(s):  
X. Guo ◽  
T. Nobunaga ◽  
H. Katoh
Keyword(s):  
Life Span ◽  
Mutant Strain ◽  
Congenic Strain ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Donor Strain ◽  
Genetic Studies ◽  
Genetic Analyses ◽  
Autosomal Recessive Gene ◽  
The Cross

A new mutant with shivering, Hula dance Sendai (tentatively named hus gene), was found in the IVCE strain. A congenic strain, C57BL/6JJcl- hus, was established by the cross-intercross method using IVCE- hus as the donor strain and C57BL/6JJcl as the recipient. No significant differences were observed in the age of the onset of shivering and life span between B6- hus and IVCE- hus mice. Genetic analyses demonstrated that this mutation is governed by an autosomal recessive gene ( Mbphus) and is an allele of the Mbpshi gene (Chr.18)

XIII.—The Genetic Basis of Alkaptonuria

1933 ◽  
Vol 52 ◽  
pp. 264-295 ◽  
Author(s):  
Lancelot Hogben ◽  
R. L. Worrall ◽  
I. Zieve
Keyword(s):  
Autosomal Recessive ◽  
Genetic Basis ◽  
Random Mating ◽  
Recessive Gene ◽  
Overwhelming Majority ◽  
Alternative Form ◽  
Gene Substitution ◽  
Autosomal Recessive Gene

Summary1. The overwhelming majority of cases of alkaptonuria are consistent with the hypothesis that this disease is determined by a single autosomal recessive gene substitution.2. The observed proportion of alkaptonurics in recorded fraternities with two normal parents and the incidence of consanguineous parentage conform quantitatively to the requirements of Mendelian hypothesis in a system of random mating.3. There appears to be an alternative form of alkaptonuria which is dominant.Grateful acknowledgment is made to Sir Archibald Garrod for advice regarding the sources consulted.

scholarly journals Observations on the Hereditary Nature of Hageman Trait

Blood ◽  
1956 ◽  
Vol 11 (6) ◽  
pp. 565-569 ◽  
Author(s):  
ALVIN MARGOLIUS ◽  
OSCAR D. RATNOFF
Keyword(s):  
Blood Coagulation ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Family Tree ◽  
The Family ◽  
Autosomal Recessive Gene ◽  
Hereditary Nature ◽  
As If

Abstract A study was made of the family tree of two sisters with Hageman trait, an asymptomatic disorder of blood coagulation. In this family the defect behaves genetically as if it is due to the transmission of an autosomal recessive gene.

scholarly journals Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV

1969 ◽  
Vol 14 (2) ◽  
pp. 163-166 ◽  
Author(s):  
Mary F. Lyon ◽  
R. Meredith
Keyword(s):  
Linkage Group ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Coat Colour ◽  
Group Xiv ◽  
Eye Colour ◽  
Autosomal Recessive Gene

The autosomal recessive gene muted, mu, which arose spontaneously, dilutes coat and eye colour and causes absence of otoliths in some but not all homozygotes. Its locus is in linkage group XIV of the mouse, and the order of loci was shown to be bg–Xt–sa–mu–f–pe.

scholarly journals A lethal mutation (cab) affecting heart function in the mouse

1979 ◽  
Vol 33 (1) ◽  
pp. 57-59 ◽  
Author(s):  
Francine B. Essien
Keyword(s):  
Autosomal Recessive ◽  
Heart Function ◽  
Recessive Gene ◽  
Lethal Mutation ◽  
Significant Finding ◽  
Cardiac Abnormality ◽  
Autosomal Recessive Gene

SUMMARYA new autosomal recessive gene (cab, ‘cardiac abnormality’), which affects heart differentiation appeared spontaneously in our mouse colony. The affected homozygotes die approximately half a day prior to birth or at term, with the myocardium exhibiting vacuolation and large areas of mesenchyme-like cells. A significant finding in mutant foetuses is the lack of histochemically detectable glycogen.

The anatomy and development of brachypodism in the mouse

Development ◽  
1973 ◽  
Vol 30 (1) ◽  
pp. 119-141
Author(s):  
H. Grüneberg ◽  
A. J. Lee
Keyword(s):  
Autosomal Recessive ◽  
Recessive Gene ◽  
Axial Skeleton ◽  
Autosomal Recessive Gene

The autosomal recessive gene for brachypodism (bp) in the mouse affects the appendicular, but not the axial skeleton. Manus and pes are more severely affected than the rest of the limbs; the girdles are normal. In digits 2–5, the basal and middle phalanges of the normal are replaced by a short and thin element which never ossifies properly; by contrast, the terminal phalanges are normal or nearly so. Up to the 13-day stage, the limbs of brachypods are externally quite normal, but anomalies of the digital blastemata are detectable in the 12-day embryo already, i.e. before the onset of chondrification. In the 14-day embryo, the overall length of metapod + phalanges is still nearly normal; but the basal and middle phalanges of the normal are represented by a single thin element which is absolutely longer whereas the metacarpale (metatarsale) is correspondingly reduced in length and calibre. This situation is subsequently reversed by heterogonic growth as the phalangeal element of brachypods grows very little. The normality of the terminal phalanges is largely due to the fact that, in the mouse, much of the terminal phalanx is formed directly from membrane and not by replacement of its cartilaginous ‘model’ on which it sits like a thimble. Brachypodism is thus due to an abnormality of the limb blastemata which precedes chondrification, but whose nature is unknown. Generally, muscular and tendinous anomalies parallel those of the skeleton.

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