Phenotypes associated with this allele

• Allele Symbol: Kdm6a^tm1.1Homy
• Allele Name: targeted mutation 1.1, Hiroaki Honda
• Allele ID: MGI:6828650
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Kdm6a^tm1.1Homy/Kdm6a^tm1.1Homy Sox1^tm1(cre)Take/Sox1^+	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj	MGI:7437663
cn2	Kdm6a^tm1.1Homy/Y Sox1^tm1(cre)Take/Sox1^+	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj	MGI:7437665

Genotype
MGI:7437663

cn1

• Allelic Composition: Kdm6a^tm1.1Homy/Kdm6a^tm1.1Homy; 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

mortality/aging

neonatal lethality, complete penetrance ( J:333188 )

♀ • females die within 1 day after birth (P1.5)

♀ • however, no macroscopic differences are seen at E12.5 or E17.5 and mice breathe normally

nervous system

abnormal neuron differentiation ( J:333188 )

♀ • coronal sections at E12.5 show higher percentage of SOX2+ neural stem/progenitor cells and a lower percentage of TBR2+ intermediate progenitor cells and TUJI+ neuronal cells, indicating impaired neural stem/progenitor cell differentiation

♀ • the percentage of Ki67-EdU+ cells is reduced, indicating a decrease in terminally differentiated neurons

abnormal brain ventricle morphology ( J:333188 )

♀ • ventricular surfaces appear disrupted

enlarged brain ventricles ( J:333188 )

♀ • mice exhibit fatal ventriculomegaly

enlarged fourth ventricle ( J:333188 )

♀ • fourth ventricles are enlarged at E17.5

enlarged lateral ventricles ( J:333188 )

♀ • lateral ventricles are larger at E12.5, E15.5, and E17.5

enlarged third ventricle ( J:333188 )

♀ • third ventricles are enlarged at E17.5

abnormal neuronal precursor cell number ( J:333188 )

♀ • coronal sections at E12.5 show higher percentage of SOX2+ neural stem/progenitor cells and a lower percentage of TBR2+ intermediate progenitor cells

decreased neuron number ( J:333188 )

♀ • coronal sections at E12.5 show a lower percentage of TUJI+ neuronal cells

cellular

abnormal neuron differentiation ( J:333188 )

♀ • coronal sections at E12.5 show higher percentage of SOX2+ neural stem/progenitor cells and a lower percentage of TBR2+ intermediate progenitor cells and TUJI+ neuronal cells, indicating impaired neural stem/progenitor cell differentiation

♀ • the percentage of Ki67-EdU+ cells is reduced, indicating a decrease in terminally differentiated neurons

Genotype
MGI:7437665

cn2

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

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