Phenotypes Associated with This Genotype

Genotype
MGI:5635889

• Allelic Composition: Idh1^tm3Mak/Idh1⁺; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

postnatal lethality, complete penetrance ( J:220318 )

• mice that survive after birth die before weaning

prenatal lethality, incomplete penetrance ( J:220318 )

• pups are rarely found alive after birth

growth/size/body

pectus excavatum ( J:220318 )

• pectus excavatum characterized by a caved-in or sunken appearance of the chest and dysplasia of tracheal cartilage

decreased body size ( J:220318 )

• dwarfism

respiratory system

abnormal tracheal cartilage morphology ( J:220318 )

• dysplasia of tracheal cartilage

skeleton

abnormal cartilage morphology ( J:220318 )

• cartilaginous dysplasia of the long bones, ribs, and tracheal cartilage

abnormal tracheal cartilage morphology ( J:220318 )

• dysplasia of tracheal cartilage

abnormal long bone epiphyseal plate morphology ( J:220318 )

• disruption of columnar structure of proliferative chondrocytes, especially in the middle of the growth plate

abnormal cartilage development ( J:220318 )

• tibia shows reduced cartilage mineralization