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Alktm1.1Ics
Targeted Allele Detail
Summary
Symbol: Alktm1.1Ics
Name: anaplastic lymphoma kinase; targeted mutation 1.1, Mouse Clinical Institute
MGI ID: MGI:5705324
Synonyms: AlkR1279Q
Gene: Alk  Location: Chr17:72175967-72911622 bp, - strand  Genetic Position: Chr17, 43.77 cM
Alliance: Alktm1.1Ics page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:228124
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 25 was replaced with one in which a point mutation that results in the amino acid substitution of glutamine for arginine at position 1279. This mutation corresponds to the R1275 identified in patients with neuroblastoma. Cre-mediated recombination removed the neomycin resistance cassette inserted downstream of the modified exon. (J:228124)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 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 Alk Mutation:  64 strains or lines available
References
Original:  J:228124 Cazes A, et al., Activated Alk triggers prolonged neurogenesis and Ret upregulation providing a therapeutic target in ALK-mutated neuroblastoma. Oncotarget. 2014 May 15;5(9):2688-702
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory