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Allele : Tln2<em1Clo> talin 2; endonuclease-mediated mutation 1, Cecilia Lo

Primary Identifier  MGI:6879498 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Tln2
Inheritance Mode  Dominant Strain of Origin  (C57BL/6 x DBA/2)F1
Is Recombinase  false Is Wild Type  false
molecularNote  Using an sgRNA (AGGTGCGAACCAGAGCCTTG) and an ssODN template (CACCCCACCCTGCCCATACCCCTCCTTACCACCAAGACGTGTTCTAGTAGGTCCAGGTAGCCCAAGGTGCATTCTGTGCCATAATGCAAGGCTCTGGTTCGCACCTCTTCACTGACATCAGGGTA) with CRISPR/Cas9 technology, a mutation was engineered (arginine codon 2239 CGG to histidine CAT, p.R2239H) that mimics a human variant found to be protective for the atrial septal defect (ASD)-causing TPM1 p.K5del mutation in human patients.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Tln2<R2239H>,
  • Tln2<R2239H>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories