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Allele : Thap11<em1Poche> THAP domain containing 11; endonuclease-mediated mutation 1, Ross Poche

Primary Identifier	MGI:6860325	Allele Type	Endonuclease-mediated
Attribute String	Not Specified	Gene	Thap11
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR/Cas9 technology generated a C to G change at position 240, resulting in a phenylalanine to leucine substitution at amino acid 80 (p.F80L), which is a conserved residue in the THAP DNA binding domain.

mutations:
Single point mutation

synonyms:
Ronin<F80L>,
Ronin<F80L>

earliestPublication:
Chern T, et al. (2022) Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy. Nat Commun 13(1):134

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

2 Carried By

0 Driven By

3 Publication categories

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