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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tfe3tm1Est
targeted mutation 1, Eirikur Steingrimsson
MGI:3044119
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tfe3tm1Est/Tfe3tm1Est either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J) MGI:3044232
cx2
MitfMi-wh/MitfMi-wh
Tfe3tm1Est/Tfe3tm1Est
either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA) MGI:3044424
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) MGI:4455023
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) MGI:3044415
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) MGI:3044416
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) MGI:4455029
cx7
MitfMi/MitfMi
Tfe3tm1Est/Tfe3tm1Est
either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J) MGI:4455022
cx8
Tfe3tm1Est/Tfe3tm1Est
Tfectm1Est/Tfectm1Est
either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J) MGI:3044234
cx9
Tfe3tm1Est/Tfe3tm1Est
Tfebtm1Est/Tfeb+
either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J) MGI:4455030


Genotype
MGI:3044232
hm1
Allelic
Composition
Tfe3tm1Est/Tfe3tm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
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




Genotype
MGI:3044424
cx2
Allelic
Composition
MitfMi-wh/MitfMi-wh
Tfe3tm1Est/Tfe3tm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi-wh mutation (11 available); any Mitf mutation (57 available)
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
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




Genotype
MGI:4455023
cx3
Allelic
Composition
MitfMi-wh/MitfMi-wh
Tfe3tm1Est/Tfe3tm1Est
Tfectm1Est/Tfectm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi-wh mutation (11 available); any Mitf mutation (57 available)
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
Tfectm1Est mutation (0 available); any Tfec mutation (11 available)
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




Genotype
MGI:3044415
cx4
Allelic
Composition
Mitfmi-vga9/Mitfmi-vga9
Tfe3tm1Est/Tfe3tm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-vga9 mutation (1 available); any Mitf mutation (57 available)
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
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




Genotype
MGI:3044416
cx5
Allelic
Composition
Mitfmi-ew/Mitfmi-ew
Tfe3tm1Est/Tfe3tm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-ew mutation (1 available); any Mitf mutation (57 available)
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
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




Genotype
MGI:4455029
cx6
Allelic
Composition
Mitfmi-ew/Mitfmi-ew
Tfe3tm1Est/Tfe3+
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-ew mutation (1 available); any Mitf mutation (57 available)
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
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




Genotype
MGI:4455022
cx7
Allelic
Composition
MitfMi/MitfMi
Tfe3tm1Est/Tfe3tm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
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




Genotype
MGI:3044234
cx8
Allelic
Composition
Tfe3tm1Est/Tfe3tm1Est
Tfectm1Est/Tfectm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
Tfectm1Est mutation (0 available); any Tfec mutation (11 available)
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




Genotype
MGI:4455030
cx9
Allelic
Composition
Tfe3tm1Est/Tfe3tm1Est
Tfebtm1Est/Tfeb+
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
Tfebtm1Est mutation (0 available); any Tfeb mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice exhibit normal eyes, pigment, mast cells, and osteoclasts





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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory