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Phenotypes Associated with This Genotype
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 (74 available)
Tfe3tm1Est mutation (1 available); any Tfe3 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:89821 )
• mice die within 3 weeks of birth

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

craniofacial

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

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

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

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

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

growth/size/body
delayed tooth eruption ( J:89821 )

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory