Hand1^tm5Abfi
Targeted Allele Detail

Summary

• Symbol: Hand1^tm5Abfi
• Name: heart and neural crest derivatives expressed 1; targeted mutation 5, Anthony B Firulli
• MGI ID: MGI:6766586
• Synonyms: Hand1^SFA126FS
• Gene: Hand1 Location: Chr11:57719539-57722973 bp, - strand Genetic Position: Chr11, 35.27 cM
• Alliance: Hand1^tm5Abfi 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 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)

Disease models

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: 14 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)