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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gja1tm4Kwi
targeted mutation 4, Klaus Willecke
MGI:3525196
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Gja1tm4Kwi/Gja1tm4Kwi involves: 129P2/OlaHsd * C57BL/6 MGI:3525601
ht2
 		Gja1tm1.1Kwi/Gja1tm4Kwi involves: 129P2/OlaHsd * C57BL/6 MGI:3525604


Genotype
MGI:3525601
hm1
Allelic
Composition		 Gja1tm4Kwi/Gja1tm4Kwi
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm4Kwi mutation (1 available); any Gja1 mutation (60 available)
♀ 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
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
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

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




Genotype
MGI:3525604
ht2
Allelic
Composition		 Gja1tm1.1Kwi/Gja1tm4Kwi
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm1.1Kwi mutation (0 available); any Gja1 mutation (60 available)
Gja1tm4Kwi mutation (1 available); any Gja1 mutation (60 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, incomplete penetrance ( J:95050 )
• about 50% of compound heterozygotes survive to adulthood

integument
integument phenotype ( J:95050 )
N
• skin appearance and barrier function are normal




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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory