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Hand1em1Abfi
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Hand1em1Abfi
Name: heart and neural crest derivatives expressed 1; endonuclease-mediated mutation 1, Anthony Firulli
MGI ID: MGI:6476937
Synonyms: Hand1deltaLV
Gene: Hand1  Location: Chr11:57719539-57722973 bp, - strand  Genetic Position: Chr11, 35.27 cM
Mutation
origin
Strain of Origin:  FVB
Mutation
description
Allele Type:    Endonuclease-mediated (Modified regulatory region)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR-targeting removed the left ventricle (LV) enhancer located upstream of the transcription initiation site (744 bp located at chr11:57660605-57661348; mm 9). This allele contains a 750 bp deletion encompassing all but 4 bp on the 5' end of the enhancer. (J:294964)
Expression
In Mice Carrying this Mutation: 23 assay results
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:  11 strains or lines available
References
Original:  J:294964 Vincentz JW, et al., Variation in a Left Ventricle-Specific Hand1 Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and Function. Circ Res. 2019 Aug 30;125(6):575-589
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
10/19/2021
MGI 6.17
The Jackson Laboratory