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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 (44 available)
Tg(Col2a1-cre/ERT2)1Dic mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
abnormal cartilage morphology ( J:220318 )
• 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 (44 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
♀ 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




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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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory