Fgf13^tm1Jom
Targeted Allele Detail

Summary

• Symbol: Fgf13^tm1Jom
• Name: fibroblast growth factor 13; targeted mutation 1, James O McNamara
• MGI ID: MGI:5704313
• Gene: Fgf13 Location: ChrX:58107505-58613431 bp, - strand Genetic Position: ChrX, 33.31 cM
• Alliance: Fgf13^tm1Jom page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:222555
• Parent Cell Line: C2 (Nagy) (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: 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. (J:222555)

Expression

In Structures Affected by this Mutation:

2 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 Fgf13 Mutation: 12 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Generalized Epilepsy with Febrile Seizures Plus J:222555.

References

• Original: J:222555 Puranam RS, et al., Disruption of Fgf13 Causes Synaptic Excitatory-Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus. J Neurosci. 2015 Jun 10;35(23):8866-81
• All: 1 reference(s)