Phenotypes associated with this allele

• Allele Symbol: Mitf^Mi-Crc
• Allele Name: microphthalmia MRC Clinical Research Centre
• Allele ID: MGI:2662140
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mitf^Mi-Crc/Mitf^Mi-Crc	involves: CBA/CaCrc	MGI:2662939
ht2	Mitf^Mi-Crc/Mitf^+	involves: CBA/CaCrc	MGI:2662973

Genotype
MGI:2662939

hm1

• Allelic Composition: Mitf^Mi-Crc/Mitf^Mi-Crc
• Genetic Background: involves: CBA/CaCrc

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

pigmentation

absent coat pigmentation ( J:83500 )

• hairs have no pigment

decreased eye pigmentation ( J:83500 )

• eyes show no pigment

craniofacial

failure of tooth eruption ( J:83500 )

reproductive system

female infertility ( J:83500 )

♀

male infertility ( J:83500 )

♂

skeleton

failure of tooth eruption ( J:83500 )

osteopetrosis ( J:83500 )

vision/eye

decreased eye pigmentation ( J:83500 )

• eyes show no pigment

microphthalmia ( J:83500 )

eyelids fail to open ( J:83500 )

• eyelids do not open

integument

absent coat pigmentation ( J:83500 )

• hairs have no pigment

growth/size/body

failure of tooth eruption ( J:83500 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness		DOID:0090100		J:83500
Tietz syndrome		DOID:0090002	OMIM:103500	J:83500
Waardenburg syndrome type 2A		DOID:0110950	OMIM:193510	J:83500

Genotype
MGI:2662973

ht2

• Allelic Composition: Mitf^Mi-Crc/Mitf⁺
• Genetic Background: involves: CBA/CaCrc

pigmentation

variable body spotting ( J:83500 )

• some heterozygotes show white spotting on the belly but not on the head

non-pigmented tail tip ( J:83500 )

abnormal iris pigmentation ( J:83500 )

• iris pigment is reduced

limbs/digits/tail

non-pigmented tail tip ( J:83500 )

vision/eye

abnormal iris pigmentation ( J:83500 )

• iris pigment is reduced

integument

variable body spotting ( J:83500 )

• some heterozygotes show white spotting on the belly but not on the head

non-pigmented tail tip ( J:83500 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness		DOID:0090100		J:83500
Tietz syndrome		DOID:0090002	OMIM:103500	J:83500
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:83500