Phenotypes associated with this allele

• Allele Symbol: Mitf^Mi-H
• Allele Name: microphthalmia Harwell
• Allele ID: MGI:2178353
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mitf^Mi-H/Mitf^Mi-H	involves: BALB/cAnN * C3H/HeN	MGI:2686994
ht2	Mitf^Mi-H/Mitf^+	involves: BALB/cAnN * C3H/HeN	MGI:2686995
ht3	Mitf^Mi-H/Mitf^Rorp	involves: BALB/cAnN * C3H/HeN	MGI:2686996

Genotype
MGI:2686994

hm1

• 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

Genotype
MGI:2686995

ht2

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

pigmentation

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

abnormal coat/hair pigmentation ( J:75964 )

irregular coat pigmentation ( J:75964 )

• described as having pale patches on their coats, most often as a head or belly spot

abnormal foot pigmentation ( J:75964 )

• mice were described as having pale feet

decreased tail pigmentation ( J:75964 )

• mice were described as having pale tails

hearing/vestibular/ear

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

limbs/digits/tail

decreased tail pigmentation ( J:75964 )

• mice were described as having pale tails

vision/eye

abnormal iris morphology ( J:75964 )

• eye examination showed mild iris transillumination

craniofacial

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

integument

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

abnormal coat/hair pigmentation ( J:75964 )

irregular coat pigmentation ( J:75964 )

• described as having pale patches on their coats, most often as a head or belly spot

abnormal foot pigmentation ( J:75964 )

• mice were described as having pale feet

decreased tail pigmentation ( J:75964 )

• mice were described as having pale tails

growth/size/body

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

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

Genotype
MGI:2686996

ht3

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

pigmentation

abnormal coat/hair pigmentation ( J:75964 )

absent coat pigmentation ( J:75964 )

• mice are described as white

abnormal iris pigmentation ( J:75964 )

• mild iris transillumination; brown pigmentation of the irises

vision/eye

abnormal iris pigmentation ( J:75964 )

• mild iris transillumination; brown pigmentation of the irises

mydriasis ( J:75964 )

coloboma ( J:75964 )

• an increased frequency of coloboma was noted

abnormal ocular fundus morphology ( J:75964 )

• described as depigmented

integument

abnormal coat/hair pigmentation ( J:75964 )

absent coat pigmentation ( J:75964 )

• mice are described as white

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