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Targeted Allele Detail
Symbol: Chn1tm1.1Ece
Name: chimerin 1; targeted mutation 1.1, Elizabeth C Engle
MGI ID: MGI:6406374
Synonyms: Chn1KI
Gene: Chn1  Location: Chr2:73441004-73605690 bp, - strand  Genetic Position: Chr2, 43.78 cM
Alliance: Chn1tm1.1Ece page
Germline Transmission:  Earliest citation of germline transmission: J:243785
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsExon 3 was replaced with a loxP-flanked exon 3 in which an A to T missense change at position 60 was introduced in exon 3, resulting in a leucine to phenylalanine substitution at amino acid 20 (L20F). An FRT-flanked neomycin selection cassette that was inserted upstream of exon 3 was removed via Flp-mediated recombination. The L20F substitution segregated in a family with Duane retraction syndrome. (J:243785)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 anatomical structures
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 Chn1 Mutation:  38 strains or lines available
Original:  J:243785 Nugent AA, et al., Mutant alpha2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. J Clin Invest. 2017 May 01;127(5):1664-1682
All:  1 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
MGI 6.22
The Jackson Laboratory