Phenotypes associated with this allele

• Allele Symbol: Mitf^Rorp
• Allele Name: retinal orange patches
• Allele ID: MGI:2178357
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mitf^Rorp/Mitf^Rorp	involves: BALB/cAnN * C3H/HeN	MGI:2686997
ht2	Mitf^Rorp/Mitf^+	involves: BALB/cAnN * C3H/HeN	MGI:2686998
ht3	Mitf^Mi-H/Mitf^Rorp	involves: BALB/cAnN * C3H/HeN	MGI:2686996

Genotype
MGI:2686997

hm1

• 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

Genotype
MGI:2686998

ht2

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

pigmentation

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler ears

abnormal coat/hair pigmentation ( J:75964 )

diluted coat color ( J:75964 )

• mice were described as having a slightly paler coat than wild-type

decreased tail pigmentation ( J:75964 )

• mice were described as having a slightly paler tails

hearing/vestibular/ear

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler ears

limbs/digits/tail

decreased tail pigmentation ( J:75964 )

• mice were described as having a slightly paler tails

vision/eye

abnormal retina morphology ( J:75964 )

• patches of orange were noted on the retina

craniofacial

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler ears

integument

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler ears

abnormal coat/hair pigmentation ( J:75964 )

diluted coat color ( J:75964 )

• mice were described as having a slightly paler coat than wild-type

decreased tail pigmentation ( J:75964 )

• mice were described as having a slightly paler tails

growth/size/body

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler 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