Phenotypes Associated with This Genotype

Genotype
MGI:3785077

• Allelic Composition: Flnb^Gt(XD076)Byg/Flnb^Gt(XD076)Byg
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

decreased survivor rate ( J:134094 )

• only 10% of mice born survive beyond P21

postnatal lethality, incomplete penetrance ( J:134094 )

• although born in Mendelian ratios, 50% of mice are lost by P5 and 90% by P21

skeleton

fused carpal bones ( J:134094 )

• 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

abnormal sternebra morphology ( J:134094 )

• 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

kyphosis ( J:134094 )

• mice that survive past P21 exhibit severe kyphosis

cervical vertebral fusion ( J:134094 )

• 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

abnormal chondrocyte morphology ( J:134094 )

• chondrocytes between sternebrae differentiated into hypertrophic chondrocytes

abnormal bone ossification ( J:134094 )

• 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

abnormal bone mineralization ( J:134094 )

• 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

decreased body size ( J:134094 )

• mice that survive past P21 are runted

behavior/neurological

abnormal posture ( J:134094 )

• 1n mice that survive beyond P21

limbs/digits/tail

fused carpal bones ( J:134094 )

• 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