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Col2a1Rgsc413
Chemically induced Allele Detail
Nomenclature
Symbol: Col2a1Rgsc413
Name: collagen, type II, alpha 1; RIKEN Genomic Sciences Center (GSC), 413
MGI ID: MGI:3800691
Synonyms: M100413
Gene: Col2a1  Location: Chr15:97975602-98004695 bp, - strand  Genetic Position: Chr15, 53.97 cM
Mutation
origin
Strain of Origin:  C57BL/6JJcl
Project Collection: RIKEN GSC ENU Project
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced an A to C point mutation that results in the amino acid substitution of serine for tyrosine at position 1391 (Y1391S). This mutation is present in patients with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T). (J:260538)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
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
Carrying any Col2a1 Mutation:  20 strains or lines available
References
Original:  J:133634 RIKEN BioResource Center/RIKEN Genomic Sciences Center, A Large Scale Mutagenesis Program in RIKEN GSC. PhenoSITE, World Wide Web (URL: http://www.brc.riken.jp/lab/gsc/mouse/). 2008;
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
10/08/2019
MGI 6.14
The Jackson Laboratory