Phenotypes Associated with This Genotype

Genotype
MGI:2686994

• Allelic Composition: Mitf^Mi-H/Mitf^Mi-H
• Genetic Background: involves: BALB/cAnN * C3H/HeN

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

pigmentation

abnormal coat/hair pigmentation ( J:75964 )

absent coat pigmentation ( J:75964 )

• mice were described as unpigmented

abnormal skin pigmentation ( J:75964 )

• mice were described as completely unpigmented

vision/eye

abnormal eye morphology ( J:75964 )

anophthalmia ( J:75964 )

• absent eyes; a small amount of tissue was present in the orbit but nothing resembling eye tissue

integument

abnormal coat/hair pigmentation ( J:75964 )

absent coat pigmentation ( J:75964 )

• mice were described as unpigmented

abnormal skin pigmentation ( J:75964 )

• mice were described as completely unpigmented

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness		DOID:0090100		J:75964
Tietz syndrome		DOID:0090002	OMIM:103500	J:75964
Waardenburg syndrome type 2A		DOID:0110950	OMIM:193510	J:75964