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Hand1tm5Abfi
Targeted Allele Detail
Summary
Symbol: Hand1tm5Abfi
Name: heart and neural crest derivatives expressed 1; targeted mutation 5, Anthony B Firulli
MGI ID: MGI:6766586
Synonyms: Hand1SFA126FS
Gene: Hand1  Location: Chr11:57719539-57722973 bp, - strand  Genetic Position: Chr11, 35.27 cM
Alliance: Hand1tm5Abfi page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:311466
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe G in codon 126 (alanine) was deleted resulting in an alanine to proline substitution and producing a 13 amino acid frame shift ending in a termination codon. A loxP-flanked neomycin cassette (Flox STOP Neo) was inserted upstream of the exon containing the mutation. Cre-excision of the stop cassette results in the expression of the mutant. This mutation was identified in individuals with hypoplastic hearts (from the Leipzig University fixed tissue collection). (J:311466)
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: 3 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 Hand1 Mutation:  15 strains or lines available
References
Original:  J:311466 Firulli BA, et al., The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice. Cardiovasc Res. 2017 Dec 1;113(14):1732-1742
All:  2 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
10/29/2024
MGI 6.24
The Jackson Laboratory