Hal^his
Spontaneous Allele Detail

Summary

• Symbol: Hal^his
• Name: histidine ammonia lyase; histidinemia
• MGI ID: MGI:1856300
• Gene: Hal Location: Chr10:93324630-93352623 bp, + strand Genetic Position: Chr10, 48.49 cM, cytoband C2-D1
• Alliance: Hal^his page

Mutation origin

• Strain of Origin: partly inbred Peru mice

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• A c.965G>A transition causes a p.Arg322Gln amino acid substitution.
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 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 Hal Mutation: 41 strains or lines available

Notes

Differences between inbred strains in rate of histidine synthesis were attributed to different alleles at this locus. Heterozygotes for high and low strains are intermediate (J:4406). The Hsd locus was shown by mapping and by biochemical properties to be a mutation in the Hal locus (J:11274, J:6821).

References

• Original: J:5382 Kacser H, et al., Histidinaemic mutant in the mouse. Nature. 1973 Jul 13;244(5411):77-9
• All: 10 reference(s)