Fgfr3<tm1Dor> Targeted Allele Detail MGI Mouse (MGI:1931521)

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Fgfr3^tm1Dor
Targeted Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Summary

Symbol:	Fgfr3^tm1Dor
Name:	fibroblast growth factor receptor 3; targeted mutation 1, David M Ornitz
MGI ID:	MGI:1931521
Synonyms:	Fgfr3 -
Gene:	Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
Alliance:	Fgfr3^tm1Dor page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:32991
Parent Cell Line:	SM1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: A neomycin cassette replaced 3 kb of sequence that encodes the Ig-like domain II through the transmembrane domain. RNAase protection analysis on samples derived from homozygous mutant adult brain indicates that this allele produces an aberrant transcript. However, any translation product produced would be unable to bind ligand and is predicted not to be transported to the cell surface. (J:32991)
Inheritance:		Recessive

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	83 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	21 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Fgfr3 Mutation:	54 strains or lines available

References

Original:	J:32991 Colvin JS, et al., Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet. 1996 Apr;12(4):390-7
All:	33 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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