Phenotypes Associated with This Genotype

Genotype
MGI:3652413

• Allelic Composition: Fbn2^tm1Rmz/Fbn2^tm1Rmz
• Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6J)

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

Bilateral syndactyly in Fbn2^tm1Rmz/Fbn2^tm1Rmz mice

limbs/digits/tail

abnormal interdigital cell death ( J:70592 )

• at E13.5 decreased apoptosis is seen in the interdigital rays

abnormal autopod morphology ( J:70592 )

• malformed at E13.5 before the appearance of interdigital cell death

syndactyly ( J:70592 )

• bilateral syndactyly involving the central 2 or 3 digits of both the hind and fore paws and always involving the first phalange

skeleton

abnormal joint morphology ( J:70592 )

• newborns have contractures of the carpal, metacarpal, and phalangeal joints in the forelimbs; however these disappear within the first few days of life

• large joints of the hindlimbs appear to be stiffer compared to wild-type littermates

respiratory system

respiratory system phenotype ( J:70592 )

N • branching morphogenesis of the lungs is normal

cellular

abnormal interdigital cell death ( J:70592 )

• at E13.5 decreased apoptosis is seen in the interdigital rays

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
distal arthrogryposis		DOID:0050646	OMIM:PS108120	J:70592