Phenotypes Associated with This Genotype

Genotype
MGI:3775522

• Allelic Composition: Flnb^{Gt(RRF239)Byg}/Flnb^{Gt(RRF239)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:132026 )

• mice were born at the expected Mendelian ratios at birth, however nearly 50% of homozygous mice were dead shortly after birth

• the pups dead neonatally had milk in their stomachs suggesting they were live born and initially able to feed

postnatal lethality, incomplete penetrance ( J:132026 )

• genotype at weaning showed greater loss of homozygous mutants indicating that a majority of mutants died within the first few days of life

growth/size/body

decreased body size ( J:132026 )

• the difference in weight corresponds to an overall difference in size

decreased body weight ( J:132026 )

• weights of mutant newborn pups were significantly smaller than control litter mates

• mutant mice were consistently smaller than their litter-mates

skeleton

fused carpal bones ( J:132026 )

• carpal fusions between the second distal carpal, centrale and the third distal carpal

abnormal radius morphology ( J:132026 )

• fusion between the fused radiale and intermedium and the ulnare in some mutants

abnormal ulna morphology ( J:132026 )

• fusion between the fused radiale and intermedium and the ulnare in some mutants

abnormal sternum morphology ( J:132026 )

• fusion of the sternum of mutants between all sternebrae and the manubrium

scoliosis ( J:132026 )

• caused by the vertebral fusions

vertebral fusion ( J:132026 )

• aberrant mineralization in the neural arches leading to fusions between individual vertebrae in newborns

• vertebral fusions throughout the cervical, thoracic, and lumbar regions in the 60 days old mutants

limbs/digits/tail

fused carpal bones ( J:132026 )

• carpal fusions between the second distal carpal, centrale and the third distal carpal

abnormal radius morphology ( J:132026 )

• fusion between the fused radiale and intermedium and the ulnare in some mutants

abnormal ulna morphology ( J:132026 )

• fusion between the fused radiale and intermedium and the ulnare in some mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondylocarpotarsal synostosis syndrome		DOID:0090116	OMIM:272460	J:132026