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Phenotypes Associated with This Genotype
Genotype
MGI:3620985
Allelic
Composition
Gja1tm2(Gjb1)Kwi/Gja1tm2(Gjb1)Kwi
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm2(Gjb1)Kwi mutation (1 available); any Gja1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although offspring of heterozygous parents exhibit an increase in lethality regardless of genotype, there is a preferential loss of homozygotes

growth/size/body
• males and females are, respectively, 56% and 77% the weight of wild-type males and females

cardiovascular system
• myocardial wall at the distal portion of the right ventricle displays haphazard trabeculae that forms abnormal spaces
• the contour of the right ventricular outlet around the pulmonary valve bulges outwards
• myocardial wall at the distal portion of the right ventricle is composed of a thin, irregular, compact layer and haphazard trabeculae forming abnormal spaces
• polymorphic non-sustained ventricular tachycardia can be induced in one homozygote
• 1 of 9 exhibits atrioventricular dissociations, however ventricular conductance is normal in homozygotes

reproductive system
• secondary spermatogonia and further differentiated stages of spermatogenesis are completely absent
• primary spermatogonia are severely reduced in number
• show all stages of follicular maturation but at reduced numbers
• most of the lumen of seminiferous tubules is occupied by Sertoli cells
• testis is more hypotrophic compared to other organs, reaching less than 20% of the testis weight (relative to body weight) of controls
• only 2 of 7 homozygous females gave birth to single fully developed pups that were born dead, however do not exhibit germ-cell deficiency

vision/eye
• 7 of 76 display uni- or bilateral cataracts of the lens at weaning

endocrine/exocrine glands
• show all stages of follicular maturation but at reduced numbers
• most of the lumen of seminiferous tubules is occupied by Sertoli cells
• testis is more hypotrophic compared to other organs, reaching less than 20% of the testis weight (relative to body weight) of controls

muscle
• myocardial wall at the distal portion of the right ventricle displays haphazard trabeculae that forms abnormal spaces

cellular
• secondary spermatogonia and further differentiated stages of spermatogenesis are completely absent
• primary spermatogonia are severely reduced in number


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory