Gnptab^nym
Chemically induced Allele Detail

Summary

• Symbol: Gnptab^nym
• Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; Nymphe
• MGI ID: MGI:5616922
• Synonyms: nym
• Gene: Gnptab Location: Chr10:88214996-88283186 bp, + strand Genetic Position: Chr10, 43.86 cM
• Alliance: Gnptab^nym page

Growth retardation, facial dysmorphism, and abnormal spine curvature and hunched back in Gnptab^nym/Gnptab^nym mice

Show the 4 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: BALB/cAnNHsd

Mutation description

Allele Type: Chemically induced (ENU) (Not Specified) Mutation: Single point mutation Mutation details: This mutant was identified in an ENU screen based on its smaller size and ataxic gait. This mutation introduces a T to A substitution at nucleotide 2601 of the cDNA sequence that changes the tyrosine into a premature stop codon at position 867 of the protein sequence (Y867X) within an evolutionarily conserved spacer region 40 residues upstream of the cleavage signal between the alpha- and beta-subunits. The mutation corresponds to one identified in Mucolipidosis type II patients and leads to the production of a slightly truncated alpha-subunit retaining 95% of the wild-type equivalent and a complete lack of the beta-subunit. (J:218156)

Identification of a single nucleotide change resulting in a coding change from a tyrosine residue (TAT) to a premature stop codon (TAA) in the Gnptab^nym allele

Disease models

Expression

In Structures Affected by this Mutation:

17 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Gnptab Mutation: 78 strains or lines available

References

• Original: J:218156 Paton L, et al., A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology. J Biol Chem. 2014 Sep 26;289(39):26709-21
• All: 1 reference(s)