Fgf14^tm1Dor
Targeted Allele Detail

Summary

• Symbol: Fgf14^tm1Dor
• Name: fibroblast growth factor 14; targeted mutation 1, David M Ornitz
• MGI ID: MGI:2183403
• Synonyms: Fgf14^N-Beta-Gal
• Gene: Fgf14 Location: Chr14:124215319-124914539 bp, - strand Genetic Position: Chr14, 66.18 cM
• Alliance: Fgf14^tm1Dor page

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 details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 40 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: 12 reference(s)