Mouse Genome Informatics
hm1
    Tfe3tm1Est/Tfe3tm1Est
either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice were indistinguishable from their wild-type littermates; exhibiting normal eyes, pigment, mast cells, osteoclasts and placentas


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
phenotype observed in males
N normal phenotype
mortality/aging
• most die at 3-4 weeks of age, although some survive to adulthood

pigmentation
• mice are white; similar to MitfMi-wh/Mi-wh mice

growth/size/body
• smaller and more runted than single homozygotes

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

vision/eye
• similar to MitfMi-wh/Mi-wh mice

integument
• mice are white; similar to MitfMi-wh/Mi-wh mice


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
phenotype observed in males
N normal phenotype
pigmentation

skeleton
• mice develop osteopetrosis similar to that observed in double MitfMi-wh and Tcfe3tm1Est mutants

vision/eye

integument


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
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 3 weeks of birth

pigmentation
• mice are white; similar to Mitfmi-vga9/mi-vga9 mice

craniofacial

skeleton
• small osteoclasts
• severe, with complete filling of the bone marrow cavity with bony material

vision/eye
• similar to Mitfmi-vga9/mi-vga9 mice

hematopoietic system
• small osteoclasts

immune system
• small osteoclasts

integument
• mice are white; similar to Mitfmi-vga9/mi-vga9 mice

growth/size/body


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
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 3 weeks of birth

pigmentation
• mice have a white coat; similar to Mitfmi-ew/mi-ew mice

craniofacial

growth/size/body

skeleton
• small osteoclasts
• severe

vision/eye
• similar to Mitfmi-ew/mi-ew mice

hematopoietic system
• small osteoclasts

immune system
• small osteoclasts

integument
• mice have a white coat; similar to Mitfmi-ew/mi-ew mice


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
phenotype observed in males
N normal phenotype
pigmentation

skeleton
• osteopetrosis is more severe than in Mitfmi-ew homozygotes but less severe than in double homozygotes

vision/eye

integument


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
phenotype observed in males
N normal phenotype
hematopoietic system
• small osteoclasts

immune system
• small osteoclasts

pigmentation

skeleton
• small osteoclasts

vision/eye

integument


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
phenotype observed in males
N normal phenotype
normal phenotype
• mice were indistinguishable from their wild-type littermates; exhibiting normal eyes, pigment, mast cells, osteoclasts and placentas


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
phenotype observed in males
N normal phenotype
normal phenotype
• mice exhibit normal eyes, pigment, mast cells, and osteoclasts