Sap130^em1Clo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sap130^em1Clo
• Name: Sin3A associated protein; endonuclease-mediated mutation 1, Cecilia Lo
• MGI ID: MGI:5906303
• Gene: Sap130 Location: Chr18:31767436-31856121 bp, + strand Genetic Position: Chr18, 17.81 cM, cytoband B2
• Alliance: Sap130^em1Clo page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Intragenic deletion
• Mutation details: This 11 bp deletion beginning at c.1213 in exon 8 is predicted to cause two splice variants resulting in an in-frame deletion from glycine at amino acid 370 through valine at amino acid 405 in splice form a, and a substitution of alanine in place of glycine at amino acid 405 followed by 13 novel amino acids and a premature stop codon in splice form d. (J:242757)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Sap130 Mutation: 50 strains or lines available

References

• Original: J:242757 Liu X, et al., The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017 Jul;49(7):1152-1159
• All: 1 reference(s)