Fkrptm1Itl
Targeted Allele Detail
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| Symbol: |
Fkrptm1Itl |
| Name: |
fukutin related protein; targeted mutation 1, inGenious Targeting Laboratory |
| MGI ID: |
MGI:4834518 |
| Synonyms: |
FKRP-neo-P448L, Fkrptm1Igl, P448Lneo+ |
| Gene: |
Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
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| Alliance: |
Fkrptm1Itl page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:164448
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| Parent Cell Line: |
iTL BA1 (ES Cell)
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| Strain of Origin: |
(C57BL/6NTac x 129S6/SvEvTac)F1
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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: Exon 3 was targeted with a point mutation changing residue 1343 in the coding region from C to T (c.1343C>T). This results in a P448L (p.Pro448Leu) substitution in the translated peptide. An FRT and loxP site flanked neomycin resistance gene cassette that was inserted into intron 2 was removed through cre-mediated recombination. This allele mimics a mutation found in certain human congenital muscular dystrophies (MDC1C) patients. In mice carrying this allele, muscle and heart cells lack glycosylation of alpha-dystroglycan.
(J:164448)
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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 Fkrp Mutation: |
21 strains or lines available
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| Original: |
J:164448 Chan YM, et al., Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Hum Mol Genet. 2010 Oct 15;19(20):3995-4006 |
| All: |
18 reference(s) |
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Analysis Tools
