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Phenotypes Associated with This Genotype
Genotype
MGI:3785077
Allelic
Composition
FlnbGt(XD076)Byg/FlnbGt(XD076)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
FlnbGt(XD076)Byg mutation (0 available); any Flnb mutation (142 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 10% of mice born survive beyond P21
• although born in Mendelian ratios, 50% of mice are lost by P5 and 90% by P21

skeleton
• mice that survive P21 exhibit carpal bone fusion
• unlike in wild-type mice, mineralization of the extracellular matrix is first visible at P15 and progresses towards bone fusion
• mice exhibit ossification in the chondrocostal cartilage of the rib cage and sterna between P15 and P30 as well as in the cartilage between sternebrae
• mice that survive past P21 exhibit severe kyphosis
• mice that survive P21 exhibit cervical vertebral fusion
• unlike in wild-type mice, mineralization of the extracellular matrix is first visible at E17.5 and progresses towards bone fusion
• chondrocytes between sternebrae differentiated into hypertrophic chondrocytes
• mice exhibit ossification in the chondrocostal cartilage of the rib cage and sterna between P15 and P30 as well as in the cartilage between sternebrae
• mice that survive past P21 exhibit fusion of the cervical vertebra and carpal bones
• mice exhibit a premature and progressive mineralization of the chondrocostal cartilage at P15 and P30

growth/size/body
• mice that survive past P21 are runted

behavior/neurological
• 1n mice that survive beyond P21

limbs/digits/tail
• mice that survive P21 exhibit carpal bone fusion
• unlike in wild-type mice, mineralization of the extracellular matrix is first visible at P15 and progresses towards bone fusion

Mouse Models of Human Disease
OMIM ID Ref(s)
Spondylocarpotarsal Synostosis Syndrome; SCT 272460 J:134094


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
07/12/2016
MGI 6.04
The Jackson Laboratory