Mouse Genome Informatics
hm1
     Tfe3tm1Est/Tfe3tm1Est
either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:89821 )
• mice were indistinguishable from their wild-type littermates; exhibiting normal eyes, pigment, mast cells, osteoclasts and placentas (J:89821)


Mouse Genome Informatics
cx2
     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 Euro Europhenome
N normal phenotype
mortality/aging
partial postnatal lethality ( J:89821 )
• most die at 3-4 weeks of age, although some survive to adulthood (J:89821)

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

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

skeleton
osteopetrosis ( J:89821 )
• 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
microphthalmia ( J:89821 )
• similar to MitfMi-wh/Mi-wh mice (J:89821)

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


Mouse Genome Informatics
cx3
     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 Euro Europhenome
N normal phenotype
pigmentation
absent coat pigmentation ( J:89821 )
• white coat (J:89821)

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

vision/eye
microphthalmia ( J:89821 )
(J:89821)

integument
absent coat pigmentation ( J:89821 )
• white coat (J:89821)


Mouse Genome Informatics
cx4
     Mitfmi-vga9/Mitfmi-vga9
Tfe3tm1Est/Tfe3tm1Est
either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
mortality/aging
complete postnatal lethality ( J:89821 )
• mice die within 3 weeks of birth (J:89821)

pigmentation
absent coat pigmentation ( J:89821 )
• mice are white; similar to Mitfmi-vga9/mi-vga9 mice (J:89821)

craniofacial

skeleton
abnormal osteoclast morphology ( J:89821 )
• small osteoclasts (J:89821)
osteopetrosis ( J:89821 )
• severe, with complete filling of the bone marrow cavity with bony material (J:89821)

vision/eye
microphthalmia ( J:89821 )
• similar to Mitfmi-vga9/mi-vga9 mice (J:89821)

hematopoietic system
abnormal osteoclast morphology ( J:89821 )
• small osteoclasts (J:89821)

immune system
abnormal osteoclast morphology ( J:89821 )
• small osteoclasts (J:89821)

integument
absent coat pigmentation ( J:89821 )
• mice are white; similar to Mitfmi-vga9/mi-vga9 mice (J:89821)


Mouse Genome Informatics
cx5
     Mitfmi-ew/Mitfmi-ew
Tfe3tm1Est/Tfe3tm1Est
either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
mortality/aging
complete postnatal lethality ( J:89821 )
• mice die within 3 weeks of birth (J:89821)

pigmentation
absent coat pigmentation ( J:89821 )
• mice have a white coat; similar to Mitfmi-ew/mi-ew mice (J:89821)

craniofacial

growth/size

skeleton
abnormal osteoclast morphology ( J:89821 )
• small osteoclasts (J:89821)
osteopetrosis ( J:89821 )
• severe (J:89821)

vision/eye
microphthalmia ( J:89821 )
• similar to Mitfmi-ew/mi-ew mice (J:89821)

hematopoietic system
abnormal osteoclast morphology ( J:89821 )
• small osteoclasts (J:89821)

immune system
abnormal osteoclast morphology ( J:89821 )
• small osteoclasts (J:89821)

integument
absent coat pigmentation ( J:89821 )
• mice have a white coat; similar to Mitfmi-ew/mi-ew mice (J:89821)


Mouse Genome Informatics
cx6
     Mitfmi-ew/Mitfmi-ew
Tfe3tm1Est/Tfe3+
either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
pigmentation
absent coat pigmentation ( J:89821 )
• white coat (J:89821)

skeleton
osteopetrosis ( J:89821 )
• osteopetrosis is more severe than in Mitfmi-ew homozygotes but less severe than in double homozygotes (J:89821)

vision/eye
microphthalmia ( J:89821 )
(J:89821)

integument
absent coat pigmentation ( J:89821 )
• white coat (J:89821)


Mouse Genome Informatics
cx7
     MitfMi/MitfMi
Tfe3tm1Est/Tfe3tm1Est
either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
hematopoietic system
abnormal osteoclast morphology ( J:89821 )
• small osteoclasts (J:89821)

immune system
abnormal osteoclast morphology ( J:89821 )
• small osteoclasts (J:89821)

pigmentation
absent coat pigmentation ( J:89821 )
• white coat (J:89821)

skeleton
abnormal osteoclast morphology ( J:89821 )
• small osteoclasts (J:89821)
osteopetrosis ( J:89821 )
(J:89821)

vision/eye
microphthalmia ( J:89821 )
(J:89821)

integument
absent coat pigmentation ( J:89821 )
• white coat (J:89821)


Mouse Genome Informatics
cx8
     Tfe3tm1Est/Tfe3tm1Est
Tfectm1Est/Tfectm1Est
either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:89821 )
• mice were indistinguishable from their wild-type littermates; exhibiting normal eyes, pigment, mast cells, osteoclasts and placentas (J:89821)


Mouse Genome Informatics
cx9
     Tfe3tm1Est/Tfe3tm1Est
Tfebtm1Est/Tfeb+
either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:89821 )
• mice exhibit normal eyes, pigment, mast cells, and osteoclasts (J:89821)