Mouse Genome Informatics
hm
    FlnbGt(RRF239)Byg/FlnbGt(RRF239)Byg
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Spondylocarpotarsal Synostosis Syndrome; SCT 272460 J:132026