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

Symbol:	Mcoln1tm1Sasl
Name:	mucolipin 1; targeted mutation 1, Susan A Slaugenhaupt
MGI ID:	MGI:3794204
Synonyms:	Trpml1-
Gene:	Mcoln1  Location: Chr8:3550458-3565232 bp, + strand  Genetic Position: Chr8, 1.92 cM
Alliance:	Mcoln1tm1Sasl page

Germline Transmission:	Earliest citation of germline transmission: J:135368
Parent Cell Line:	LC3 (ES Cell)
Strain of Origin:	(C57BL/6N x 129S6/SvEvTac)F1

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 3, 4 and part of exon 5 were replaced with a neo cassette. The absence of transcript was confirmed by RT-PCR on brain extracts. (J:135368)

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

In Structures Affected by this Mutation:

13 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Mcoln1 Mutation:	39 strains or lines available

Original:	J:135368 Venugopal B, et al., Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet. 2007 Nov;81(5):1070-83
All:	28 reference(s)