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Phenotypes Associated with This Genotype
Genotype
MGI:4360747
Allelic
Composition
Ext1tm1Yama/Ext1tm1Yama
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
B6.Cg-H2az2Tg(Wnt1-cre)11Rth Ext1tm1Yama
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (63 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Craniofacial malformation in Ext1tm1Yama/Ext1tm1YamaH2az2Tg(Wnt1-cre)11Rth/0 mice

mortality/aging
• all mice die within the first day of birth

vision/eye
• mice exhibit eye morphology defects
• however, lens thickness is normal
• 58% of mutant mice exhibit ciliary body coloboma
• at E18.5, 99% of mutant mice exhibit ventral iris coloboma
• the corneal stroma lacks collagen staining unlike in wild-type mice
• shallow anterior chamber

craniofacial

hearing/vestibular/ear

embryo
• at E15.5, neural crest cell proliferation is reduced compared to in wild-type mice
• however, neural crest cell migration into the periocular mesenchyme at E11.5 and levels of apoptosis are normal

digestive/alimentary system

cellular
• at E15.5, neural crest cell proliferation is reduced compared to in wild-type mice
• however, neural crest cell migration into the periocular mesenchyme at E11.5 and levels of apoptosis are normal

growth/size/body


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
04/16/2024
MGI 6.23
The Jackson Laboratory