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Phenotypes Associated with This Genotype
Genotype
MGI:3807710
Allelic
Composition
Gja1tm8Kwi/Gja1+
Tg(Pgk1-cre)1Lni/0
Genetic
Background
involves: 129S2/SvPas * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1tm8Kwi mutation (1 available); any Gja1 mutation (35 available)
Tg(Pgk1-cre)1Lni mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 54% lethality occurs between E14.5 and 16.5

craniofacial
• only males were tested
• observed in 70% of mutants
• mutants have different angle of zygomatic arch relative to wild-type
• decreased enamel thickness in is observed as translucent teeth which wear faster with age
• 80% of mutants display enamel hypoplasia
• mandible size in mutants is reduced compared to wild-type
• some mice have differences in angle of nasal bone compared to wild-type
• some mutants show obvious compactness of facial region
• depressed nasal bridge is seen in some mutants with craniofacial abnormalites

limbs/digits/tail
• 70% of mutants exhibit syndactyly (type III); this is observed in second, third, and fourth digits on all limbs

skeleton
• bone abnormalities were examined in males only
• mutants have different angle of zygomatic arch relative to wild-type
• decreased enamel thickness in is observed as translucent teeth which wear faster with age
• 80% of mutants display enamel hypoplasia
• mandible size in mutants is reduced compared to wild-type
• some mice have differences in angle of nasal bone compared to wild-type
• osteopenia is observed in mutants
• trabecular spacing is increased; however, although trabecular thickness is not different, osteoblast number is not decreased significantly
• mutants have a reduction in trabecular bone mass

cellular
• cultured cells show 2-fold higher ATP release upon stimulation in calcium-free solution compared to wild-type cells

integument
• observed in 30% of mutants and becomes more pronounced with age

growth/size/body
• decreased enamel thickness in is observed as translucent teeth which wear faster with age
• 80% of mutants display enamel hypoplasia
• some mutants show obvious compactness of facial region
• depressed nasal bridge is seen in some mutants with craniofacial abnormalites

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
oculodentodigital dysplasia DOID:0060291 OMIM:164200
OMIM:257850
J:132032


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
10/08/2019
MGI 6.14
The Jackson Laboratory