Phenotypes Associated with This Genotype

Genotype
MGI:2686997

• Allelic Composition: Mitf^Rorp/Mitf^Rorp
• 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 )

abnormal iris pigmentation ( J:75964 )

• abnormal pigmentation of the irises

vision/eye

abnormal iris pigmentation ( J:75964 )

• abnormal pigmentation of the irises

mydriasis ( J:75964 )

coloboma ( J:75964 )

• an increased frequency of coloboma was noted

abnormal retina morphology ( J:75964 )

• reduced total pigment with remaining pigment in scattered patches

integument

abnormal coat/hair pigmentation ( J:75964 )

absent coat pigmentation ( J:75964 )

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