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Alktm2.1Ics
Targeted Allele Detail
Summary
Symbol: Alktm2.1Ics
Name: anaplastic lymphoma kinase; targeted mutation 2.1, Mouse Clinical Institute
MGI ID: MGI:5705326
Synonyms: AlkF1178L
Gene: Alk  Location: Chr17:72175967-72911622 bp, - strand  Genetic Position: Chr17, 43.77 cM
Alliance: Alktm2.1Ics 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 details: Exon 23 was replaced with one in which a point mutation (TTC to CTC) that results in the amino acid substitution of leucine for phenyalanine at position 1178. This mutation corresponds to the F1174 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 Mice Carrying this Mutation: 9 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 6 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:  4 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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Funding Information
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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory