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Allele : Lmx1b<em2Esd> LIM homeobox transcription factor 1 beta; endonuclease-mediated mutation 2, Evan S Deneris

Primary Identifier  MGI:8240281 Allele Type  Endonuclease-mediated
Attribute String  Not Specified Gene  Lmx1b
Strain of Origin  C57BL/6 x SJL Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR-targeting of exons 4 and 5 introduced the mutation (CGA to CAA) responsible for the amino acid substitution of arginine with glutamine at position 246 (R200Q). This mutation mimics the mutation found in human beings with LMX1B DNA-binding missense mutations.
  • mutations:
  • Single point mutation
  • synonyms:
  • Lmx1b<R200Q>,
  • Lmx1b<R200Q>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Genotypes/models

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories