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Myoftm1Mcn
Targeted Allele Detail
Nomenclature
Symbol: Myoftm1Mcn
Name: myoferlin; targeted mutation 1, Elizabeth McNally
MGI ID: MGI:4822406
Synonyms: MKO
Gene: Myof  Location: Chr19:37899036-38043577 bp, - strand  Genetic Position: Chr19, 32.53 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:163585
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structures
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 Myof Mutation:  9 strains or lines available
References
Original:  J:163585 Doherty KR, et al., Normal myoblast fusion requires myoferlin. Development. 2005 Dec;132(24):5565-75
All:  3 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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last database update
11/12/2019
MGI 6.14
The Jackson Laboratory