Dysftm1.1Mdcb
Targeted Allele Detail
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Symbol: |
Dysftm1.1Mdcb |
Name: |
dysferlin; targeted mutation 1.1, Max-Delbrueck-Center for Molecular Medicine Berlin |
MGI ID: |
MGI:6690810 |
Synonyms: |
DYSFL1360P, MMex38 |
Gene: |
Dysf Location: Chr6:83985572-84188042 bp, + strand Genetic Position: Chr6, 36.14 cM
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Alliance: |
Dysftm1.1Mdcb page
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Germline Transmission: |
Earliest citation of germline transmission:
J:302056
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Single point mutation
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Mutation details: A T to C mutation at position 4079 was introduced in exon 38 resulting in a leucine to proline substitution at amino acid 1360 (p.Leu1360Pro). A loxP flanked neomycin resistance cassette was inserted in intron 38 and was removed via cre-mediated recombination. This mutation is analogous to the human c.4022T>C (p.Leu1341Pro) variant causing LGMD2B. Western blot analysis of quadriceps muscle shows significantly reduced protein levels.
(J:302056)
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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 Dysf Mutation: |
183 strains or lines available
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Original: |
J:302056 Malcher J, et al., Exon Skipping in a Dysf-Missense Mutant Mouse Model. Mol Ther Nucleic Acids. 2018 Dec 7;13:198-207 |
All: |
3 reference(s) |
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