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Allele : Sap130<em1Clo> Sin3A associated protein; endonuclease-mediated mutation 1, Cecilia Lo

Primary Identifier  MGI:5906303 Allele Type  Endonuclease-mediated
Attribute String  Modified isoform(s) Gene  Sap130
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele