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

Symbol:	Utrntm1Jrs
Name:	utrophin; targeted mutation 1, Joshua R Sanes
MGI ID:	MGI:2148539
Synonyms:	uko, utrn-
Gene:	Utrn  Location: Chr10:12257932-12745109 bp, - strand  Genetic Position: Chr10, 3.77 cM
Alliance:	Utrntm1Jrs page

Germline Transmission:	Earliest citation of germline transmission: J:39218
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin resistance cassette replaced 2.7 kb of sequence including 52 bp of the exon that encodes the beginning of the C-terminal cysteine rich region. RT-PCR analysis demonstrated that a mutant transcript carrying the deletion was made in homozygous and heterozygous mice. Western blot analysis on extracts of muscle or lung tissue derived from homozygous mice confirmed that no detectable protein was expressed from this allele. (J:39218)

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Utrn Mutation:	306 strains or lines available

Original:	J:39218 Grady RM, et al., Subtle neuromuscular defects in utrophin-deficient mice. J Cell Biol. 1997 Feb 24;136(4):871-82
All:	59 reference(s)