Mbnl2tm1.1Sws
Targeted Allele Detail
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Symbol: |
Mbnl2tm1.1Sws |
Name: |
muscleblind like splicing factor 2; targeted mutation 1.1, Maurice W Swanson |
MGI ID: |
MGI:5616630 |
Synonyms: |
Mbnl2deltaE2 |
Gene: |
Mbnl2 Location: Chr14:120513081-120669109 bp, + strand Genetic Position: Chr14, 64.44 cM
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Alliance: |
Mbnl2tm1.1Sws page
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Germline Transmission: |
Earliest citation of germline transmission:
J:218010
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129S1/SvImJ
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Mbnl2 Mutation: |
66 strains or lines available
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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: |
14 reference(s) |
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