Rr132^em1Abfi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rr132^em1Abfi
• Name: regulatory region 132; endonuclease-mediated mutation 1, Anthony B Firulli
• MGI ID: MGI:6476937
• Synonyms: Hand1^deltaLV, Hand1^em1Abfi
• Gene: Rr132 Location: Chr11:57737929-57738672 bp Genetic Position: Chr11, Syntenic
• Alliance: Rr132^em1Abfi page

Mutation origin

• Strain of Origin: FVB

Mutation description

• Allele Type: Endonuclease-mediated (Modified regulatory region)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-targeting removed the left ventricle (LV) enhancer located upstream of the Hand1 gene transcription initiation site (744 bp located at chr11:57660605-57661348; NCBIm37/mm9). 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 Rr132 Mutation: 0 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)