Fkrptm1.2Itl
Targeted Allele Detail
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| Symbol: |
Fkrptm1.2Itl |
| Name: |
fukutin related protein; targeted mutation 1.2, inGenious Targeting Laboratory |
| MGI ID: |
MGI:5897355 |
| Synonyms: |
FKRPP448L, Fkrptm1.1Qil |
| Gene: |
Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
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| Alliance: |
Fkrptm1.2Itl page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:240736
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| Parent Cell Line: |
Not Specified (ES Cell)
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| Strain of Origin: |
Not Specified
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| Allele Type: |
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Targeted (Humanized sequence) |
| Mutation: |
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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 flp-mediated recombination. This allele mimics a mutation found in human limb-girdle muscular dystrophy type 2I (LGMD2I) patients.
(J:240736)
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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:240736 Vannoy CH, et al., Adeno-Associated Virus-Mediated Mini-Agrin Delivery Is Unable to Rescue Disease Phenotype in a Mouse Model of Limb Girdle Muscular Dystrophy Type 2I. Am J Pathol. 2017 Feb;187(2):431-440 |
| All: |
2 reference(s) |
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Analysis Tools
