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Phenotypes Associated with This Genotype
Genotype
MGI:5635889
Allelic
Composition
\Idh1tm3Mak/\Idh1+
\Tg(Col2a1-cre)1Bhr/0
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Idh1tm3Mak mutation (0 available); any Idh1 mutation (41 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice that survive after birth die before weaning
• pups are rarely found alive after birth

growth/size/body
• pectus excavatum characterized by a caved-in or sunken appearance of the chest and dysplasia of tracheal cartilage
• dwarfism

respiratory system
• dysplasia of tracheal cartilage

skeleton
• cartilaginous dysplasia of the long bones, ribs, and tracheal cartilage
• dysplasia of tracheal cartilage
• disruption of columnar structure of proliferative chondrocytes, especially in the middle of the growth plate
• tibia shows reduced cartilage mineralization


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory