Mouse Genome Informatics
hm1
    MitfMi-wh/MitfMi-wh
B6.Cg-MitfMi-wh
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• pigment granules are absent at E11
• at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
• after E12 in some area the cells are columnar rather than cuboidal
• at all stages the number of mitoses is increased compared to control pigment layers
• pigment granules are absent from the pigment layer at E11
• after E12, a few pigment granules may be found in the front edge of the pigment layer
• at birth a few pigment granules are present near the iris

vision/eye
• slightly reduced in size from E13 onwards
• irregularly formed surrounding less than half of the spherical lens
• at E12 the choroid fissure is mostly closed but the joining of the retinal nervous layer is not smooth and a large retinal eversion is present at the rear of the optic cup where the fissure fails to close
• in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure
• slight increase in diameter at E11
• shorter and somewhat greater in diameter at E11.5 and E12
• slightly smaller at birth
• the lens fills the space normally occupied by the vitreous body
• pigment granules are absent at E11
• at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
• after E12 in some area the cells are columnar rather than cuboidal
• at all stages the number of mitoses is increased compared to control pigment layers
• pigment granules are absent from the pigment layer at E11
• after E12, a few pigment granules may be found in the front edge of the pigment layer
• at birth a few pigment granules are present near the iris
• at birth the choroid fissure is irregularly closed in the anterior eye and open from the posterior part of the lens to the rear of the optic cup
• in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure
• at birth, the layers are less clearly defined

skeleton
N
• unlike MitfMi homozygotes no skeletal abnormalities are seen (J:5046)

homeostasis/metabolism
• bleed time of only 1 minute after tail nick is significantly less than the 3.8 minutes in C57BL/6J controls


Mouse Genome Informatics
hm2
    MitfMi-wh/MitfMi-wh
involves: C57BL * C57BL/6J * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• eyes are slightly pigmented

skeleton
N
• normal bone development and mice do not develop osteopetrosis (J:89821)

vision/eye
• eyes are slightly pigmented

integument


Mouse Genome Informatics
hm3
    MitfMi-wh/MitfMi-wh
involves: C57BL * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

MitfMi-wh/+ and MitfMi-wh/MitfMi-wh and control

pigmentation
• coat color is indistinguishable from that of Tyrc homozygotes (J:13058)
• the coat is entirely lacking pigment (J:125080)
• eyes are pink and pigmentless
• little or no pigment in the iris

vision/eye
• eyes are pink and pigmentless
• little or no pigment in the iris
• eye size appears reduced compared to f Tyrc homozygotes (J:13058)
• the eyes are only mildly reduced in size (J:125080)

growth/size
• reduced body size compared to f Tyrc homozygotes

reproductive system
• litter size is reduced in homozygous female to homozygous male crosses

hearing/vestibular/ear
• no section of the cochlear duct was ever found to be normal
• abnormal in its entirety
• the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule

nervous system

integument
• coat color is indistinguishable from that of Tyrc homozygotes (J:13058)
• the coat is entirely lacking pigment (J:125080)


Mouse Genome Informatics
ht4
    MitfMi-wh/Mitf+
involves: C57BL * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

MitfMi-wh/+

pigmentation
• coat color is gray and somewhat lighter than that of Myo5ad homozygotes (J:13058)
• coat color darkens slightly with age (J:13058)
• small spots may occur on the back, but spotting is not found on the head
• reduced foot pigmentation
• reduced tail pigmentation
• moderate dilution of the iris pigmentation
• eyes are a very dark ruby color

limbs/digits/tail
• reduced tail pigmentation

vision/eye
• moderate dilution of the iris pigmentation
• eyes are a very dark ruby color

integument
• coat color is gray and somewhat lighter than that of Myo5ad homozygotes (J:13058)
• coat color darkens slightly with age (J:13058)
• small spots may occur on the back, but spotting is not found on the head
• reduced foot pigmentation
• reduced tail pigmentation


Mouse Genome Informatics
ht5
    MitfMi-wh/Mitfmi-sp
B6.Cg-MitfMi-wh/Mitfmi-sp/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• 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)
• medullary granules vary greatly in size and shape and are less dense than wild-type
• the tail, feet, and ears are largely unpigmented although the eyes have pigment

craniofacial

hearing/vestibular/ear

limbs/digits/tail

integument
• 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)
• medullary granules vary greatly in size and shape and are less dense than wild-type
• the tail, feet, and ears are largely unpigmented although the eyes have pigment


Mouse Genome Informatics
ht6
    MitfMi-b/MitfMi-wh
involves: 101/Rl * C3H/Rl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• agouti mice are light cream with white spots
• eyes appear ruby

vision/eye
• eyes appear ruby

integument
• agouti mice are light cream with white spots


Mouse Genome Informatics
ht7
    Mitftm5.1Arnh/MitfMi-wh
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL * C57BL/6N * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
integument
• considerably darkened compared to heterozygous MitfMi-wh/Mitf+ mice

pigmentation
• considerably darkened compared to heterozygous MitfMi-wh/Mitf+ mice


Mouse Genome Informatics
ht8
    Mitftm6.1Arnh/MitfMi-wh
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL * C57BL/6N * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• slightly darker coat color

integument
• slightly darker coat color


Mouse Genome Informatics
ht9
    Mitftm4.1Arnh/MitfMi-wh
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL * C57BL/6N * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• gray, darkening somewhat with age
• small spots may occur on the body, but spotting is not found on the head

integument
• gray, darkening somewhat with age
• small spots may occur on the body, but spotting is not found on the head


Mouse Genome Informatics
ht10
    Mitftm4Arnh/MitfMi-wh
involves: 129S6/SvEvTac * C57BL * C57BL/6N * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• fawn coat color

integument
• fawn coat color


Mouse Genome Informatics
ht11
    Mitftm5Arnh/MitfMi-wh
involves: 129S6/SvEvTac * C57BL * C57BL/6N * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• fawn coat color

integument
• fawn coat color


Mouse Genome Informatics
ht12
    Mitftm6Arnh/MitfMi-wh
involves: 129S6/SvEvTac * C57BL * C57BL/6N * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• fawn coat color

integument
• fawn coat color


Mouse Genome Informatics
ht13
    Mitftm7Arnh/MitfMi-wh
involves: 129S6/SvEvTac * C57BL * C57BL/6N * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• fawn coat color

integument
• fawn coat color


Mouse Genome Informatics
ht14
    Mitftm7.1Arnh/MitfMi-wh
involves: 129S6/SvEvTac * C57BL * C57BL/6N * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• considerably darkened

integument
• considerably darkened


Mouse Genome Informatics
ht15
    MitfMi-wh/Mitfmi-x
NZB/Mac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• reduced eye size
• eyelid closure is of variable extent


Mouse Genome Informatics
cx16
    MitfMi-wh/MitfMi-wh
Tfe3tm1Est/Tfe3tm1Est

either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most die at 3-4 weeks of age, although some survive to adulthood (J:89821)

pigmentation
• mice are white; similar to MitfMi-wh/Mi-wh mice (J:89821)

growth/size
• smaller and more runted than single homozygotes (J:89821)

skeleton
• bones show signs of osteopetrosis with intermediate extensions of bony trabeculae; less severe than in homozygous Tcfe3tm1Est mice with other Mitf mutations (J:89821)

vision/eye
• similar to MitfMi-wh/Mi-wh mice (J:89821)

integument
• mice are white; similar to MitfMi-wh/Mi-wh mice (J:89821)


Mouse Genome Informatics
cx17
    MitfMi-wh/MitfMi-wh
Tfectm1Est/Tfectm1Est

either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation

skeleton
N
• osteopetrosis is not observed amd bone development appears normal (J:89821)

vision/eye

integument


Mouse Genome Informatics
cx18
    MitfMi-wh/MitfMi-wh
Tfe3tm1Est/Tfe3tm1Est
Tfectm1Est/Tfectm1Est

either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• white coat (J:89821)

skeleton
• mice develop osteopetrosis similar to that observed in double MitfMi-wh and Tcfe3tm1Est mutants (J:89821)

vision/eye
(J:89821)

integument
• white coat (J:89821)


Mouse Genome Informatics
cx19
    MitfMi-wh/MitfMi-wh
Tfebtm1Est/Tfeb+

involves: 129S1/Sv * C57BL * C57BL/6J * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation

skeleton
N
• mutants do not develop osteopetrosis (J:89821)

vision/eye

integument


Mouse Genome Informatics
cx20
    MitfMi-wh/Mitf+
Myo5ad/Myo5ad

involves: C57BL * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• coat color is pastel gray or silver
• eyes are red

vision/eye
• eyes are red

integument
• coat color is pastel gray or silver