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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 (155 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
DO ID OMIM ID(s) Ref(s)
spondylocarpotarsal synostosis syndrome DOID:0090116 OMIM: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
11/14/2017
MGI 6.11
The Jackson Laboratory