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Tg(Col2a1*G574S)1Waho
Transgene Detail
Summary
Symbol: Tg(Col2a1*G574S)1Waho
Name: transgene insertion 1, William A Horton
MGI ID: MGI:7261448
Transgene: Tg(Col2a1*G574S)1Waho  Location: unknown  
Alliance: Tg(Col2a1*G574S)1Waho page
Transgene
origin
Strain of Origin:  Not Applicable
Transgene
description
Transgene Type:    Transgenic (Dominant negative, Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(Col2a1*G574S)1Waho expresses 1 gene
 
Mutation detailsA G to A change in exon 33 resulting in a glycine to serine substitution at amino acid 574 (Gly574Ser) was introduced slightly carboxy-terminal to the middle of the triple helical domain of the mouse type II collagen (Col2a1). This mutation was identified in a patient with the lethal human chondrodysplasia, hypochondrogenesis, and acts as a dominant negative. (J:38204)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
References
Original:  J:38204 Maddox BK, et al., Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen. Dev Dyn. 1997 Feb;208(2):170-7
All:  2 reference(s)

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
03/19/2024
MGI 6.23
The Jackson Laboratory