Phenotypes Associated with This Genotype

Genotype
MGI:7437665

• Allelic Composition: Kdm6a^tm1.1Homy/Y; Sox1^tm1(cre)Take/Sox1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

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

craniofacial

domed cranium ( J:333188 )

♂ • mice exhibit a dome-shaped skull, typically observed in hydrocephalus

growth/size/body

decreased body size ( J:333188 )

♂

mortality/aging

premature death ( J:333188 )

♂ • more than 50% of males develop hydrocephalus and die within approximately 2 months after birth

nervous system

hydrocephaly ( J:333188 )

♂ • more than 50% of males develop hydrocephalus

enlarged lateral ventricles ( J:333188 )

♂

abnormal cerebral cortex morphology ( J:333188 )

♂ • the cortex of the brain is reduced and flattened

thin cerebral cortex ( J:333188 )

♂

skeleton

domed cranium ( J:333188 )

♂ • mice exhibit a dome-shaped skull, typically observed in hydrocephalus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kabuki syndrome		DOID:0060473	OMIM:147920 OMIM:300867	J:333188