Mouse Genome Informatics
hm1
    FlnbGt(XD076)Byg/FlnbGt(XD076)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
• 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
• 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 IDRef(s)
Spondylocarpotarsal Synostosis Syndrome; SCT 272460 J:134094


Mouse Genome Informatics
cx2
    FlnbGt(XD076)Byg/FlnbGt(XD076)Byg
Runx2tm1Mjo/Runx2+

involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
N
• mice exhibit normal cervical vertebrae (J:134094)
• at P0, cranial sutures remain open and the occipital bone is less developed than in Runx2tm1Mjo heterozygotes
• at P0, the occipital bone is less developed than in Runx2tm1Mjo heterozygotes
• ossification between sternebrae observed in FlnbGt(XD076)Byg homozygotes is partially rescued

craniofacial
• at P0, cranial sutures remain open and the occipital bone is less developed than in Runx2tm1Mjo heterozygotes
• at P0, the occipital bone is less developed than in Runx2tm1Mjo heterozygotes