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Phenotypes Associated with This Genotype
Genotype
MGI:3775522
Allelic
Composition
FlnbGt(RRF239)Byg/FlnbGt(RRF239)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
FlnbGt(RRF239)Byg mutation (1 available); any Flnb mutation (142 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• 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
• the difference in weight corresponds to an overall difference in size
• weights of mutant newborn pups were significantly smaller than control litter mates
• mutant mice were consistently smaller than their litter-mates

skeleton
• fusion between the fused radiale and intermedium and the ulnare in some mutants
• fusion between the fused radiale and intermedium and the ulnare in some mutants
• carpal fusions between the second distal carpal, centrale and the third distal carpal
• fusion of the sternum of mutants between all sternebrae and the manubrium
• caused by the vertebral fusions
• 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
• fusion between the fused radiale and intermedium and the ulnare in some mutants
• fusion between the fused radiale and intermedium and the ulnare in some mutants
• carpal fusions between the second distal carpal, centrale and the third distal carpal

Mouse Models of Human Disease
OMIM ID Ref(s)
Spondylocarpotarsal Synostosis Syndrome; SCT 272460 J:132026


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory