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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Mitfmi-sp
microphthalmia spotted
MGI:1856092
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Mitfmi-sp/Mitfmi-sp B6.Cg-MitfMi-wh/Mitfmi-sp/J MGI:3821717
ht2
 		MitfMi-wh/Mitfmi-sp B6.Cg-MitfMi-wh/Mitfmi-sp/J MGI:3821718
ht3
 		MitfMi/Mitfmi-sp B6.Cg-MitfMi/Mitfmi-sp MGI:3822043
ht4
 		MitfMi/Mitfmi-sp involves: C57BL/6J MGI:3821854


Genotype
MGI:3821717
hm1
Allelic
Composition		 Mitfmi-sp/Mitfmi-sp
Genetic
Background		 B6.Cg-MitfMi-wh/Mitfmi-sp/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-sp mutation (10 available); any Mitf mutation (74 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
pigmentation phenotype ( J:12946 , J:35685 )
N
• homozygotes have a normal appearance since the mutation is only visibly evident in compound heterozygotes (J:12946)
• the number, kind, and arrangement of cortical pigment granules in the hair is normal (J:12946)
(J:35685)
hypopigmentation ( J:12946 )
• despite the normal black coat color, homozygotes have reduced tyrosinase activity as evidenced by reduced incorporation of radiolabeled tyrosine into skin slices from 5 day old homozygotes




Genotype
MGI:3821718
ht2
Allelic
Composition		 MitfMi-wh/Mitfmi-sp
Genetic
Background		 B6.Cg-MitfMi-wh/Mitfmi-sp/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-sp mutation (10 available); any Mitf mutation (74 available)
MitfMi-wh mutation (8 available); any Mitf mutation (74 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
abnormal coat/hair pigmentation ( J:12946 , J:35685 )
• compound heterozygotes are pale yellow with well demarcated white spots on both the dorsum and ventrum (J:12946)
• at the first moult the hairs that had initially been pale yellow become sooty in color (J:12946)
abnormal hair shaft melanin granule morphology ( J:12946 )
• medullary granules vary greatly in size and shape and are less dense than wild-type
abnormal foot pigmentation ( J:12946 )
• the tail, feet, and ears are largely unpigmented although the eyes have pigment

craniofacial

hearing/vestibular/ear

limbs/digits/tail

integument
abnormal coat/hair pigmentation ( J:12946 , J:35685 )
• compound heterozygotes are pale yellow with well demarcated white spots on both the dorsum and ventrum (J:12946)
• at the first moult the hairs that had initially been pale yellow become sooty in color (J:12946)
abnormal hair shaft melanin granule morphology ( J:12946 )
• medullary granules vary greatly in size and shape and are less dense than wild-type
abnormal foot pigmentation ( J:12946 )
• the tail, feet, and ears are largely unpigmented although the eyes have pigment

growth/size/body
decreased ear pigmentation ( J:12946 )




Genotype
MGI:3822043
ht3
Allelic
Composition		 MitfMi/Mitfmi-sp
Genetic
Background		 B6.Cg-MitfMi/Mitfmi-sp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (74 available)
Mitfmi-sp mutation (10 available); any Mitf mutation (74 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
absent coat pigmentation ( J:12946 )
• by backcross generation N5 the coat color is all white with all hair devoid of pigment
decreased eye pigmentation ( J:12946 )
• ruby colored eyes

vision/eye
decreased eye pigmentation ( J:12946 )
• ruby colored eyes

integument
absent coat pigmentation ( J:12946 )
• by backcross generation N5 the coat color is all white with all hair devoid of pigment




Genotype
MGI:3821854
ht4
Allelic
Composition		 MitfMi/Mitfmi-sp
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (74 available)
Mitfmi-sp mutation (10 available); any Mitf mutation (74 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
hypopigmentation ( J:12946 , J:35685 )
• Background Sensitivity: prior to backcross generation N5 on the C57BL/6J background mice are white except for a variable number of faint irregular pigment patches; the faint dorsal pigmentation is lost with further backcrossing (J:12946)
decreased eye pigmentation ( J:12946 )
• ruby colored eyes

vision/eye
decreased eye pigmentation ( J:12946 )
• ruby colored eyes




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory