Phenotypes Associated with This Genotype

Genotype
MGI:3044413

• Allelic Composition: Mitf^Mi-wh/Mitf^Mi-wh
• Genetic Background: involves: C57BL * DBA

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

Mitf^Mi-wh/+ and Mitf^Mi-wh/Mitf^Mi-wh and control

pigmentation

absent coat pigmentation ( J:125080 , J:13058 )

• the coat is entirely lacking pigment (J:125080)

• coat color is indistinguishable from that of Tyr^c homozygotes (J:13058)

ocular albinism ( J:13058 )

• eyes are pink and pigmentless

decreased eye pigmentation ( J:125080 )

• little or no pigment in the iris

vision/eye

ocular albinism ( J:13058 )

• eyes are pink and pigmentless

decreased eye pigmentation ( J:125080 )

• little or no pigment in the iris

microphthalmia ( J:125080 , J:13058 )

• the eyes are only mildly reduced in size (J:125080)

• eye size appears reduced compared to f Tyr^c homozygotes (J:13058)

growth/size/body

decreased body size ( J:13058 )

• reduced body size compared to f Tyr^c homozygotes

reproductive system

reduced fertility ( J:125080 )

decreased litter size ( J:13058 )

• litter size is reduced in homozygous female to homozygous male crosses

hearing/vestibular/ear

abnormal cochlea morphology ( J:125080 )

• no section of the cochlear duct was ever found to be normal

abnormal cochlear hair cell morphology ( J:125080 )

abnormal stria vascularis morphology ( J:125080 )

• abnormal in its entirety

abnormal vestibular saccule morphology ( J:125080 )

• the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule

nervous system

abnormal cochlear hair cell morphology ( J:125080 )

integument

absent coat pigmentation ( J:125080 , J:13058 )

• the coat is entirely lacking pigment (J:125080)

• coat color is indistinguishable from that of Tyr^c homozygotes (J:13058)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness		DOID:0090100		J:13058
Tietz syndrome		DOID:0090002	OMIM:103500	J:13058
Waardenburg syndrome type 2A		DOID:0110950	OMIM:193510	J:13058