Cftr<tm1Kth> Targeted Allele Detail MGI Mouse (MGI:1857151)

Cftr^tm1Kth
Targeted Allele Detail

Summary

Symbol:	Cftr^tm1Kth
Name:	cystic fibrosis transmembrane conductance regulator; targeted mutation 1, Kirk R Thomas
MGI ID:	MGI:1857151
Synonyms:	c.1656_1660del, CFTRdeltaF508, deltaF, deltaF508 Cftr, p.F508del
Gene:	Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
Alliance:	Cftr^tm1Kth page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:29074
Parent Cell Line:	CC1.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd

Mutation
description

Allele Type:		Targeted (Hypomorph)
Mutation:		Intragenic deletion
		Mutation details: The allele contains a 3 bp deletion in exon 11 resulting in the loss of phenylalanine codon 508 (p.F508del). This deletion mimics the deltaF508 mutation found in human cystic fibrosis patients. A neomycin selection cassette was also inserted in intron 11 in reverse transcriptional orientation to the gene. In salivary glands transcription levels from the allele are comparable to wild-type, but no protein was detected. Protein was detected in testes but it was mislocalized. Transcription levels in intestine were greatly reduced. (J:29074)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any Cftr Mutation:	97 strains or lines available

Notes

This (J:29074) and other (J:27734, J:28979) targeted mutations reproduce the common human mutation, eliminating the same phenylalanine from the protein sequence. In at least one of these models, the mutant is temperature sensitive, and can be expressed on the apical membrane when cultured at low temperatures, which is also true of the human mutant lacking the same phenylalanine residue (J:35364).

References

Original:	J:29074 Zeiher BG, et al., A mouse model for the delta F508 allele of cystic fibrosis. J Clin Invest. 1995 Oct;96(4):2051-64
All:	81 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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