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Allele : Fgf13<tm1Jom> fibroblast growth factor 13; targeted mutation 1, James O McNamara

Primary Identifier  MGI:5704313 Allele Type  Targeted
Attribute String  Null/knockout Gene  Fgf13
Transmission  Germline Strain of Origin  C57BL/6NTac
Is Recombinase  false Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Generalized Epilepsy with Febrile Seizures Plus J:222555.
molecularNote  A targeting vector was designed to remove the 3' region of exon 2 and a 600 bp intronic sequence common to all isoforms and replace it with a neomycin-resistance cassette and an in-frame stop codon after the last codon of the remaining exon 2. qPCR analysis of hippocampal and cortical mRNA from 50 day old heterozygous females indicates an approximate 50% reduction of mRNA and Western blot confirmed an approximate 50% reduction in protein.
  • mutations:
  • Intragenic deletion,
  • Insertion
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories