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Fgf14tm1Dor
Targeted Allele Detail
Nomenclature
Symbol: Fgf14tm1Dor
Name: fibroblast growth factor 14; targeted mutation 1, David M Ornitz
MGI ID: MGI:2183403
Synonyms: Fgf14N-Beta-Gal
Gene: Fgf14  Location: Chr14:123977907-124677127 bp, - strand  Genetic Position: Chr14, 66.18 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:77806
Parent Cell Line:  SM1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA cassette containing lacZ and neo genes was inserted into exon 2. The construct was designed such that a fusion protein, containing the alternatively spliced exon 1 and lacZ product, would be produced. The insertion deleted the majority of exon 2 and all of exon 3, which encode residues conserved in the FGF family. Transcript was undetected via Northern blot analysis of total cerebellar RNA obtained from homozygous mutant mice. While in situ hybridization and RNA blot analysis showed similar mRNA expression patterns between the mutant and endogenous alleles, protein expression patterns were shown to vary via X-gal staining. (J:77806)
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: 4 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 Fgf14 Mutation:  19 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Paroxysmal dyskinesia (J:77806)
References
Original:  J:77806 Wang Q, et al., Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. Neuron. 2002 Jul 3;35(1):25-38
All:  10 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
10/01/2019
MGI 6.14
The Jackson Laboratory