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Allele : Dmxl1<em3Rstot> Dmx-like 1; endonuclease-mediated mutation 3, Rolf Stottmann

Primary Identifier  MGI:8293348 Allele Type  Endonuclease-mediated
Attribute String  Hypomorph Gene  Dmxl1
Strain of Origin  C57BL/6NCrl Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR-targeting introduced the mutation (GCA to ACA) responsible for the amino acid substitution of alanine with threonine at position 2330 (A2330T). Quantitative real-time PCR analysis of craniofacial tissues at E13.5 shows a ~25% and ~40% reduction of Dmxl1 expression in heterozygous and homozygous embryos, respectively, suggesting that this could be a hypomorphic allele with sufficient transcript levels and/or protein activity for DMXL1 function and animal survival.
  • mutations:
  • Single point mutation
  • synonyms:
  • Dmxl1<A2330T>,
  • Dmxl1<A2330T>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Genotypes/models

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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3 Publication categories

Trail: Allele