Fkrp<tm1Scbr> Targeted Allele Detail MGI Mouse (MGI:4835411)

Fkrp^tm1Scbr
Targeted Allele Detail

Summary

Symbol:	Fkrp^tm1Scbr
Name:	fukutin related protein; targeted mutation 1, S C Brown
MGI ID:	MGI:4835411
Synonyms:	FKRP^KD, FKRP-Neo^Tyr307Asn
Gene:	Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
Alliance:	Fkrp^tm1Scbr page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:164634
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Mutation
description

Allele Type:		Targeted (Conditional ready, No functional change)
Mutations:		Insertion, Single point mutation
		Mutation details: A point mutation of a T to an A at 919, that results in a Tyr to Asn amino acid change at residue 307 and a floxed neomycin cassette within intron 2 were inserted by homologous recombination. Quantitative real time PCR showed that mice expressed only 40% of the wild-type level of mRNA. Western blotting showed a reduction in the band intensity in brain, skeletal muscle and heart relative to wild-type. (J:164634)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Fkrp Mutation:	21 strains or lines available

References

Original:	J:164634 Ackroyd MR, et al., Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. Brain. 2009 Feb;132(Pt 2):439-51
All:	5 reference(s)

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