Phenotypes Associated with This Genotype

Genotype
MGI:3695719

• Allelic Composition: Krt4^Bcc1/Krt4^Bcc1
• Genetic Background: C3HeB/FeJ-Krt4^Bcc1

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:116740 )

• slight but significant reduction in survival

craniofacial

abnormal oral mucosa morphology ( J:116740 )

• mild lymphocytic infiltration in the submucosa

oral leukoplakia ( J:116740 )

• primarily on the tongue but also found on the palatal and esophageal mucosa

• mucosal thickening and cytolysis of the spinous layer within lesions; however, the basal cell layer is intact

abnormal tongue morphology ( J:116740 )

• normal architecture is absent and the tissue is friable

digestive/alimentary system

abnormal oral mucosa morphology ( J:116740 )

• mild lymphocytic infiltration in the submucosa

oral leukoplakia ( J:116740 )

• primarily on the tongue but also found on the palatal and esophageal mucosa

• mucosal thickening and cytolysis of the spinous layer within lesions; however, the basal cell layer is intact

abnormal tongue morphology ( J:116740 )

• normal architecture is absent and the tissue is friable

growth/size/body

abnormal oral mucosa morphology ( J:116740 )

• mild lymphocytic infiltration in the submucosa

oral leukoplakia ( J:116740 )

• primarily on the tongue but also found on the palatal and esophageal mucosa

• mucosal thickening and cytolysis of the spinous layer within lesions; however, the basal cell layer is intact

abnormal tongue morphology ( J:116740 )

• normal architecture is absent and the tissue is friable

postnatal growth retardation ( J:116740 )

• runted and underdeveloped by 2 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
white sponge nevus		DOID:0050448	OMIM:PS193900	J:116740