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Phenotypes Associated with This Genotype
Genotype
MGI:5292663
Allelic
Composition
Tfap2btm1Rbu/Tfap2btm1Rbu
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2btm1Rbu mutation (0 available); any Tfap2b mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Postaxial accessory digits in Tfap2btm1Rbu/Tfap2btm1Rbu mice

mortality/aging
• most pups die within 24 h of birth

cardiovascular system
• progressive capillary congestion in newborns
• in all mice at 2 h and 6 h post birth

limbs/digits/tail
• an additional finger-like structure (with a single phalange and no nail) grows out laterally from the 5th finger on the forelimbs of all mice
• extra digits are seen on hindlimbs in only 5% of mice

respiratory system
• progressive capillary congestion in newborns
• disorganized and shrunken alveolar structure that is more severely affected in dying and dead pups

cellular
• in all mice at 2 h and 6 h post birth

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Char syndrome DOID:0060563 OMIM:169100
J:175832


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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory