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Allele : Fxr1<em1Geno> FMR1 autosomal homolog 1; endonuclease-mediated mutation 1, Genoway

Primary Identifier	MGI:6468027	Allele Type	Endonuclease-mediated
Attribute String	Null/knockout	Gene	Fxr1
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR/Cas9 genome editing technology was used to generate a 4-bp deletion (delACAG) in exon 15. Two identical lines were generated but not distinguished in the analysis.

mutations:
Intragenic deletion

synonyms:
delACAG,
delACAG

earliestPublication:
Estan MC, et al. (2019) Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun 10(1):797

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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