Hand1tm5Abfi
Targeted Allele Detail
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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
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Alliance: |
Hand1tm5Abfi page
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Germline Transmission: |
Earliest citation of germline transmission:
J:311466
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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 (Conditional ready, Humanized sequence) |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: The 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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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 Hand1 Mutation: |
15 strains or lines available
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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) |
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