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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gja1tm7(Gja2)Kwi
targeted mutation 7, Klaus Willecke
MGI:3763136
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gja1tm7(Gja2)Kwi/Gja1tm7(Gja2)Kwi involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:3763181
ht2
Gja1tm7(Gja2)Kwi/Gja1+ involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:3763182


Genotype
MGI:3763181
hm1
Allelic
Composition
Gja1tm7(Gja2)Kwi/Gja1tm7(Gja2)Kwi
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm7(Gja2)Kwi mutation (1 available); any Gja1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Tubuli seminiferi and ductuli epididymidis of wild type and Gja1tm7(Gja2)Kwi/Gja1tm7(Gja2)Kwi mice

cellular
• no sperm are detected in the epididymis
• however, intratesticular testosterone levels are normal
• only sporadic primary spermatocytes are observed

mortality/aging
• fewer than expected mice survive to weaning and beyond (6% compared to the expected 25%)
• increased mortality is associated with having a heterozygous mother
• however, survival can be improved by fostering mice to wild-type mothers
• fewer than expected mice are born (17% compared to the expected 25%)

reproductive system
• ovaries contain only a few follicles
• the full range of follicle stages is missing
• the maturation of follicles is arrested at the early secondary stage with most follicles missing oocytes
• in extreme cases the ovary is displaced by one big cyst
• testis weight is reduced to one forth of wild-type in all males
• differentiated stages of spermatogenesis are absent
• with the exception of sporadic spermatocytes, no spermatozoa or other stages of spermatogenesis are found
• no sperm are detected in the epididymis
• however, intratesticular testosterone levels are normal
• only sporadic primary spermatocytes are observed

cardiovascular system
• unlike other Gja1 deficient mice, only the size of the heart is smaller in neonates
• 95+/-24 mg compared to 121+/-26 mg for wild-type mice
• however, left-ventricular mass and ejection fraction are normal in neonates while heart rate and ejection volume are normal in adults
• 300+/-70 beats per minute compared to 346+/-80 beats per minute in wild-type neonates
• however, there is no difference in electrocardiogram readings for neonates
• infra-Hisian conduction is impaired (9.5+/-0.7 ms compared to 12.4+/-2.4 ms in wild-type mice)
• hearts exhibit prolonged QRS (10.9+/-0.6 ms compared to 9.1+/-0.7 ms in wild-type hearts)
• hearts exhibit shorter rate-corrected QTc-intervals (12.2+/-1.1 ms compared to 16.0+/-2.6 ms for wild-type hearts) in surface electrocardiogram

growth/size/body
• in extreme cases the ovary is displaced by one big cyst
• mice weigh is reduced by 30% (20+/-2 g compared to 31+/-3 g for wild-type mice)

endocrine/exocrine glands
• ovaries contain only a few follicles
• the full range of follicle stages is missing
• the maturation of follicles is arrested at the early secondary stage with most follicles missing oocytes
• in extreme cases the ovary is displaced by one big cyst
• testis weight is reduced to one forth of wild-type in all males




Genotype
MGI:3763182
ht2
Allelic
Composition
Gja1tm7(Gja2)Kwi/Gja1+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm7(Gja2)Kwi mutation (1 available); any Gja1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Histological sections of lactating mammary glands of wild type and Gja1tm7(Gja2)Kwi/Gja1+ mice

reproductive system
• 9 days post coitum, glandular alveoli are less dilated and the ductuli are less branched resulting in fewer secretory alveoli unlike in wild-type mice, the glandular unit is composed of extended areas of adipose tissue
• however, differentiation does occur in some alveoli and milk droplets are observed

cardiovascular system
• 329+/-67 beats per minute compared to 346+/-80 beats per minute in wild-type neonates
• however, there is no difference in electrocardiogram readings for neonates

endocrine/exocrine glands
• 9 days post coitum, glandular alveoli are less dilated and the ductuli are less branched resulting in fewer secretory alveoli unlike in wild-type mice, the glandular unit is composed of extended areas of adipose tissue
• however, differentiation does occur in some alveoli and milk droplets are observed

integument
• 9 days post coitum, glandular alveoli are less dilated and the ductuli are less branched resulting in fewer secretory alveoli unlike in wild-type mice, the glandular unit is composed of extended areas of adipose tissue
• however, differentiation does occur in some alveoli and milk droplets are observed





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory