Phenotypes Associated with This Genotype

Genotype
MGI:7333170

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Kmt2d^tm2.1Kaig/Kmt2d⁺
• Genetic Background: involves: C57BL/6J * CBA/J

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

craniofacial

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• chondrocytes are not as hypertrophic with a decrease in cell area

small presphenoid bone ( J:294895 )

• reduced

short nasal bone ( J:294895 )

• less severe than in homozygous mice

domed cranium ( J:294895 )

• dome shaped forehead

broad face ( J:294895 )

abnormal snout morphology ( J:294895 )

• depressed snout

abnormal ear shape ( J:294895 )

• rounded ears

hearing/vestibular/ear

abnormal ear shape ( J:294895 )

• rounded ears

growth/size/body

short nasal bone ( J:294895 )

• less severe than in homozygous mice

broad face ( J:294895 )

abnormal snout morphology ( J:294895 )

• depressed snout

abnormal ear shape ( J:294895 )

• rounded ears

postnatal growth retardation ( J:294895 )

skeleton

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• chondrocytes are not as hypertrophic with a decrease in cell area

small presphenoid bone ( J:294895 )

• reduced

short nasal bone ( J:294895 )

• less severe than in homozygous mice

domed cranium ( J:294895 )

• dome shaped forehead

respiratory system

short nasal bone ( J:294895 )

• less severe than in homozygous mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kabuki syndrome		DOID:0060473	OMIM:147920 OMIM:300867	J:294895