Manba^tm1Khf

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Species

Mus musculus

Symbol

Manba^tm1Khf

Category

allele

Allele of gene

Manba

Transgenic Constructs

None

Synonyms

None

Description

Disruption of out-of-frame exon 5 with a neomycin cassette via homologous recombination resulted in the splicing of exon 4 to exon 6. This resulted in the introduction of a premature translational stop codon. Homozygous mutant mice had no detectable beta-mannosidase activity in any tissue, and heterozygotes had apporoximately half the enzyme activity of wild-type. Alpha-mannosidase activity was increased in the mutants compared to wild-type, especially at older ages.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations