Mbnl2^tm1.1Sws
Targeted Allele Detail

Summary

• Symbol: Mbnl2^tm1.1Sws
• Name: muscleblind like splicing factor 2; targeted mutation 1.1, Maurice W Swanson
• MGI ID: MGI:5616630
• Synonyms: Mbnl2^deltaE2
• Gene: Mbnl2 Location: Chr14:120513081-120669109 bp, + strand Genetic Position: Chr14, 64.44 cM
• Alliance: Mbnl2^tm1.1Sws page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:218010
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S1/SvImJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The targeting vector consisting of a loxP site, exon 2, a frt-flanked neomycin cassette, and a loxP site was inserted into the locus. Cre-mediated recombination deleted exon 2 and the neomycin cassette. DNA blot analysis confirmed the presence of the disrupted allele and RT-PCR confirmed ablation of the full-length mRNA expression. Western blot confirmed a complete absence of protein, indicating this is a functionally null allele. (J:218010)

Disease models

Expression

In Mice Carrying this Mutation:	5 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 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 Mbnl2 Mutation: 66 strains or lines available

References

• Original: J:218010 Charizanis K, et al., Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron. 2012 Aug 9;75(3):437-50
• All: 15 reference(s)