Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Hand1em2Abfi
Name:	heart and neural crest derivatives expressed 1; endonuclease-mediated mutation 2, Anthony B Firulli
MGI ID:	MGI:6476938
Synonyms:	Hand136,75
Gene:	Hand1  Location: Chr11:57719539-57722973 bp, - strand  Genetic Position: Chr11, 35.27 cM
Alliance:	Hand1em2Abfi page

Strain of Origin:

FVB

Allele Type:    Endonuclease-mediated (Not Specified) Mutation:    Nucleotide substitutions   Mutation details: CRISPR-targeting generated an allele carrying the minor variants of the QRS duration-associated equivalent to human SNPs rs10076436-C and rs10054375-G within the left ventricle enhancer (LV). (J:294964)

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

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)