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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Idh1tm3Mak
targeted mutation 3, Tak Mak
MGI:5635887
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Idh1tm3Mak/Idh1+
Tg(Col2a1-cre/ERT2)1Dic/0
involves: C57BL/6 MGI:5635894
cn2
Idh1tm3Mak/Idh1+
Tg(Col2a1-cre)1Bhr/0
involves: C57BL/6 * SJL MGI:5635889


Genotype
MGI:5635894
cn1
Allelic
Composition
Idh1tm3Mak/Idh1+
Tg(Col2a1-cre/ERT2)1Dic/0
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Idh1tm3Mak mutation (0 available); any Idh1 mutation (42 available)
Tg(Col2a1-cre/ERT2)1Dic mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• mice injected with tamoxifen at 4 weeks of age for 10 doses exhibit knees with multiple enchondroma-like cartilage lesions adjacent to the growth plates; 4-8 cartilage lesions are seen in the growth plates of each knee




Genotype
MGI:5635889
cn2
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 (42 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





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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
05/14/2024
MGI 6.23
The Jackson Laboratory