Phenotypes Associated with This Genotype

Genotype
MGI:5292663

• Allelic Composition: Tfap2b^tm1Rbu/Tfap2b^tm1Rbu
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Postaxial accessory digits in Tfap2b^tm1Rbu/Tfap2b^tm1Rbu mice

mortality/aging

neonatal lethality, incomplete penetrance ( J:175832 )

• most pups die within 24 h of birth

cardiovascular system

pulmonary vascular congestion ( J:175832 )

• progressive capillary congestion in newborns

patent ductus arteriosus ( J:175832 )

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

congestive heart failure ( J:175832 )

limbs/digits/tail

postaxial polydactyly ( J:175832 )

• 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

pulmonary vascular congestion ( J:175832 )

• progressive capillary congestion in newborns

abnormal pulmonary alveolar system morphology ( J:175832 )

• disorganized and shrunken alveolar structure that is more severely affected in dying and dead pups

cellular

patent ductus arteriosus ( J:175832 )

• 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