Mlc1^tm1.2Nune
Targeted Allele Detail

Summary

• Symbol: Mlc1^tm1.2Nune
• Name: megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human); targeted mutation 1.2, Virginia Nunes
• MGI ID: MGI:5618264
• Gene: Mlc1 Location: Chr15:88840087-88863192 bp, - strand Genetic Position: Chr15, 44.46 cM
• Alliance: Mlc1^tm1.2Nune page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:210308
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted into intron 1 and a loxP site and an FRT flanked neo cassette were inserted into intron 3 via homologous recombination. Flp mediated recombination removed the neo cassette. Cre mediated recombination removed exons 2 and 3. (J:210308)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Mlc1 Mutation: 28 strains or lines available

Notes

ES cell line = H129.

References

• Original: J:210308 Hoegg-Beiler MB, et al., Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction. Nat Commun. 2014;5:3475
• All: 5 reference(s)