Mcoln1^tm1Sasl
Targeted Allele Detail

Summary

• Symbol: Mcoln1^tm1Sasl
• 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: Mcoln1^tm1Sasl page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

Find Mice (IMSR)

• 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: 41 strains or lines available

Notes

ES cell line = LC3, which carries GFP.

References

• 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: 29 reference(s)