Phenotypes Associated with This Genotype

Genotype
MGI:7471469

• Allelic Composition: Kdm6a^{tm1c(EUCOMM)Wtsi}/Kdm6a^{tm1c(EUCOMM)Wtsi}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA/J

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

cardiovascular system

patent ductus arteriosus ( J:249358 )

♀ • patent ductus arteriosus congenital heart defects without abnormalities in ventricular septal closure

cellular

patent ductus arteriosus ( J:249358 )

♀ • patent ductus arteriosus congenital heart defects without abnormalities in ventricular septal closure

craniofacial

abnormal craniofacial morphology ( J:249358 )

♀ • craniofacial skeletal abnormalities manifest in embryonic development

♀ • however, posterior cranial structures such as parietal bones derived from non-neural crest origins are unaffected

abnormal Meckel's cartilage morphology ( J:249358 )

♀ • mice show no deficiencies in cartilage distribution, but exhibit a persistence of mandibular cartilage

abnormal facial morphology ( J:249358 )

♀ • females exhibit greater facial depression, a broader dome-shaped forehead

♀ • alternations in facial angle are seen at E18.5

short frontal bone ( J:249358 )

♀ • dramatic shortening of frontal bones

thin frontal bone ( J:249358 )

♀ • E18.5 cranial regions show decreased frontal bone thickness

short nasal bone ( J:249358 )

♀ • dramatic shortening of nasal bones

♀ • however, gross bone composition is normal

cleft palate ( J:249358 )

♀ • partially penetrant cleft palate

abnormal nasal tip morphology ( J:249358 )

♀ • mice show severely depressed nasal tip

abnormal ear lobe morphology ( J:249358 )

♀ • rounded low-set earlobes

digestive/alimentary system

cleft palate ( J:249358 )

♀ • partially penetrant cleft palate

growth/size/body

abnormal facial morphology ( J:249358 )

♀ • females exhibit greater facial depression, a broader dome-shaped forehead

♀ • alternations in facial angle are seen at E18.5

short frontal bone ( J:249358 )

♀ • dramatic shortening of frontal bones

thin frontal bone ( J:249358 )

♀ • E18.5 cranial regions show decreased frontal bone thickness

short nasal bone ( J:249358 )

♀ • dramatic shortening of nasal bones

♀ • however, gross bone composition is normal

cleft palate ( J:249358 )

♀ • partially penetrant cleft palate

abnormal nasal tip morphology ( J:249358 )

♀ • mice show severely depressed nasal tip

abnormal ear lobe morphology ( J:249358 )

♀ • rounded low-set earlobes

postnatal growth retardation ( J:249358 )

♀ • mice show reduction in weight starting at P3 that persists throughout adulthood

♀ • growth retardation is more severe than in males

hearing/vestibular/ear

abnormal ear lobe morphology ( J:249358 )

♀ • rounded low-set earlobes

mortality/aging

postnatal lethality, incomplete penetrance ( J:249358 )

♀ • approximately 40% die before weaning

respiratory system

short nasal bone ( J:249358 )

♀ • dramatic shortening of nasal bones

♀ • however, gross bone composition is normal

abnormal nasal tip morphology ( J:249358 )

♀ • mice show severely depressed nasal tip

skeleton

abnormal Meckel's cartilage morphology ( J:249358 )

♀ • mice show no deficiencies in cartilage distribution, but exhibit a persistence of mandibular cartilage

short frontal bone ( J:249358 )

♀ • dramatic shortening of frontal bones

thin frontal bone ( J:249358 )

♀ • E18.5 cranial regions show decreased frontal bone thickness

short nasal bone ( J:249358 )

♀ • dramatic shortening of nasal bones

♀ • however, gross bone composition is normal

vision/eye

narrow eye opening ( J:249358 )

♀ • severe palpebral fissure reduction

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kabuki syndrome		DOID:0060473	OMIM:147920 OMIM:300867	J:249358