Phenotypes Associated with This Genotype

Genotype
MGI:5788533

• Allelic Composition: Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
• Genetic Background: involves: FVB/N

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

mortality/aging

perinatal lethality, complete penetrance ( J:233234 )

skeleton

abnormal skeleton morphology ( J:233234 )

• E16.5 embryos exhibit a range of skeletal abnormalities

abnormal carpal bone morphology ( J:233234 )

• boundaries of the carpals are poorly defined in moderately affected mutants

fused carpal bones ( J:233234 )

• carpal fusions are seen in severely affected mutants

abnormal phalanx morphology ( J:233234 )

• phalanges are irregularly shaped in moderately and severely affected mutants

abnormal metacarpal bone morphology ( J:233234 )

• metacarpals are irregularly shaped in moderately and severely affected mutants

abnormal long bone diaphysis morphology ( J:233234 )

• long bones have narrow diaphysis and proportionally wider epiphyses

thickened long bone epiphysis ( J:233234 )

• long bones have narrow diaphysis and proportionally wider epiphyses

decreased length of long bones ( J:233234 )

abnormal lumbar vertebrae morphology ( J:233234 )

• moderately affected mutants exhibit lumbar vertebrae with flattened mineralized vertebral bodies and an abnormal pattern of mineralization

• lumbar vertebrae from severely affected mutants show extreme vertebral abnormalities

abnormal epiphyseal plate morphology ( J:233234 )

• moderately affected mutants exhibit a narrower proliferative zone with a widened reserve zone and less well-defined boundaries between the different zones of the growth plate

• severely affected mutants exhibit a highly disorganized growth plate with more pronounced widening of the reserve zone, lack of an organized proliferative zone, and a narrow hypertrophic zone, with poorly defined margins between each zone

abnormal long bone epiphyseal plate proliferative zone ( J:233234 )

• moderately affected mutants exhibit a narrower proliferative zone

• severely affected mutants lack an organized proliferative zone

decreased width of hypertrophic chondrocyte zone ( J:233234 )

• severely affected mutants exhibit a narrow hypertrophic zone

abnormal bone mineralization ( J:233234 )

• spines of most mice have an abnormal pattern of mineralization with merging of the ossified regions of the central core and lateral processes

decreased bone mineralization ( J:233234 )

• severely affected mutants show complete absence of mineralization of the long bones

failure of endochondral bone ossification ( J:233234 )

• most severely affected mice show an almost complete lack of mineralization of all endochondral bones

• the most severely affected mice show a complete lack of ossification of the vertebral bodies but a small amount of ectopic ossification in a portion of the lumbar spine

• however, membranous bones ossify normally

craniofacial

midface hypoplasia ( J:233234 )

short snout ( J:233234 )

growth/size/body

midface hypoplasia ( J:233234 )

short snout ( J:233234 )

decreased fetal size ( J:233234 )

homeostasis/metabolism

abnormal fluid regulation ( J:233234 )

• most severely affected embryos appear hydropic

limbs/digits/tail

abnormal carpal bone morphology ( J:233234 )

• boundaries of the carpals are poorly defined in moderately affected mutants

fused carpal bones ( J:233234 )

• carpal fusions are seen in severely affected mutants

abnormal phalanx morphology ( J:233234 )

• phalanges are irregularly shaped in moderately and severely affected mutants

abnormal metacarpal bone morphology ( J:233234 )

• metacarpals are irregularly shaped in moderately and severely affected mutants

short limbs ( J:233234 )

short tail ( J:233234 )