hm1

Mitf^Mi-Crc/Mitf^Mi-Crc
CBA/CaCrc

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	Euro	Europhenome
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 )

(J:83500)

male infertility ( J:83500 )

(J:83500)

skeleton

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

Mouse Models of Human Disease	OMIM ID	Ref(s)
Albinism, Ocular, with Sensorineural Deafness	103470	J:83500
Tietz Syndrome	103500	J:83500
Waardenburg Syndrome, Type 2A; WS2A	193510	J:83500

ht2

Mitf^Mi-Crc/Mitf⁺
CBA/CaCrc

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	Euro	Europhenome
N	normal phenotype

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	OMIM ID	Ref(s)
Albinism, Ocular, with Sensorineural Deafness	103470	J:83500
Tietz Syndrome	103500	J:83500
Waardenburg Syndrome, Type 1; WS1	193500	J:83500