Phenotypes Associated with This Genotype

Genotype
MGI:3525601

• Allelic Composition: Gja1^tm4Kwi/Gja1^tm4Kwi
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:95050 )

• most homozygotes die within 1 week of birth with less than 0.7% surviving to adulthood

cardiovascular system

abnormal heart shape ( J:95050 )

• mutant hearts are bulb shaped

small heart ( J:95050 )

dilated heart left ventricle ( J:95050 )

• cardiography indicated various changes in the left ventricle including dilation or hypertrophy suggesting functional impairment of the left ventricle

decreased heart rate ( J:95050 )

prolonged QT interval ( J:95050 )

• 7 out of 40 homozygotes had QT-prolongation with ST- and T-elevation

endocrine/exocrine glands

absent corpus luteum ( J:95050 )

♀ • no corpora rubra are seen

abnormal ovarian follicle morphology ( J:95050 )

♀ • rifts are seen between follicular epithelial cells of late secondary oocytes

absent mature ovarian follicles ( J:95050 )

♀ • folliculogenesis arrests at the antral stage

homeostasis/metabolism

impaired skin barrier function ( J:95050 )

• impaired epidermal barrier function becomes progressively worse over the first days after birth

reproductive system

absent corpus luteum ( J:95050 )

♀ • no corpora rubra are seen

abnormal ovarian follicle morphology ( J:95050 )

♀ • rifts are seen between follicular epithelial cells of late secondary oocytes

absent mature ovarian follicles ( J:95050 )

♀ • folliculogenesis arrests at the antral stage

impaired luteinization ( J:95050 )

♀ • premature luteinization without preceding ovulation is seen

female infertility ( J:95050 )

♀

integument

impaired skin barrier function ( J:95050 )

• impaired epidermal barrier function becomes progressively worse over the first days after birth

abnormal epidermis stratum corneum morphology ( J:95050 )

• more layers of abnormally thin corneocytes are seen

abnormal epidermis stratum granulosum morphology ( J:95050 )

• more and larger keratohyaline granules are seen

abnormal skin condition ( J:95050 )

• the skin peels off in large squames especially on the forehead, posterior back, and extremities with constriction bands found around the tails