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Allele : Usp45<em1Qzha> ubiquitin specific petidase 45; endonuclease-mediated mutation 1, Qingjiong Zhang

Primary Identifier	MGI:7329914	Allele Type	Endonuclease-mediated
Attribute String	Null/knockout	Gene	Usp45
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR/Cas9 technology generated a 7 bp deletion in exon 14, introducing an early stop codon.

mutations:
Intragenic deletion

earliestPublication:
Yi Z, et al. (2019) Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. J Med Genet 56(5):325-331

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

3 Publication categories

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