Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Myoftm1Mcn
Name:	myoferlin; targeted mutation 1, Elizabeth McNally
MGI ID:	MGI:4822406
Synonyms:	MKO
Gene:	Myof  Location: Chr19:37887484-38032025 bp, - strand  Genetic Position: Chr19, 32.53 cM
Alliance:	Myoftm1Mcn page

Germline Transmission:	Earliest citation of germline transmission: J:163585
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: The transcription start site and exon 1 which contains the translation start site were replaced with a floxed neomycin selection cassette. Transcripts starting with exon 2 can be detected by RT-PCR but no protein can be detected immunologically. (J:163585)

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Myof Mutation:	99 strains or lines available

Original:	J:163585 Doherty KR, et al., Normal myoblast fusion requires myoferlin. Development. 2005 Dec;132(24):5565-75
All:	3 reference(s)