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Allele : Neb<m2Anu> nebulin; mutation 2, Australian National University

Primary Identifier	MGI:6404214	Allele Type	Chemically induced (ENU)
Attribute String	Not Specified	Gene	Neb
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false	Project Collection	APF ENU Mutagenesis

molecularNote

ENU mutagenesis induced a C to G change at position 2805 resulting in a tyrosine to premature stop codon at position 935 of the protein (Y935X).

mutations:
Single point mutation

synonyms:
Neb<Y935X>,
Neb<Y935X>

earliestPublication:
Laitila JM, et al. (2020) Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. Acta Neuropathol Commun 8(1):18

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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