- increased urine histidine level / MGI
STOCK Halhis/H
Status | Available to order |
EMMA ID | EM:05325 |
International strain name | STOCK Halhis/H |
Alternative name | Histidinaemic |
Strain type | Spontaneous |
Allele/Transgene symbol | Halhis, |
Gene/Transgene symbol | Hal |
Information from provider
Provider | Clare Selden |
Provider affiliation | Centre for Hepatology, UCL Medical School |
Genetic information | A single base mutation in the histidase gene which blocks the conversion of histidine to urocanic acid. The guanine to adenine transition which occurs in the histidase gene on mouse chrom. 10 leads to an amino acid substitution from arginine to glutamine. This mutation leads to an unstable form of the histidase (histidine ammonia lyase) enzyme. |
Phenotypic information | Coat Colour: grey. Behaviour: neurotic. Homozygotes, heterozygotes and wild-types are not visibly distinguishable, but a urine test can rapidly screen wild-types from homozygotes. HPLC quantification of histidine in urine can distinguish heterozygotes from homozygotes. |
Breeding history | A naturally occurring mutation in a strain of wild mice. This has been backcrossed to C57BL/6J for several generations. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | heterozygous 0, heterozygous 0 |
Breeding at archiving centre | Produced by crossing homozygous males vs females, or heterozygous males vs females. |
Stage of embryos | 8-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Histidinemia / Orphanet_2157
MGI phenotypes (allele matching)
Literature references
- Histidinaemia in mouse and man.;Bulfield G, Kacser H, ;1974;Archives of disease in childhood;49;545-52; 4546820
- Histidinemia in mice: a metabolic defect treated using a novel approach to hepatocellular transplantation.;Selden C, Calnan D, Morgan N, Wilcox H, Carr E, Hodgson H J, ;1995;Hepatology (Baltimore, Md.);21;1405-12; 7537713
- Assignment of histidase-regulating locus to chromosome 10 of the mouse.;Arfin S M, Hanford W C, Taylor B A, ;1979;Biochemical genetics;17;529-35; 518536
- Histidase and histidinemia. Clinical and molecular considerations.;Taylor R G, Levy H L, McInnes R R, ;1991;Molecular biology & medicine;8;101-16; 1943682
- Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1.;Taylor R G, García-Heras J, Sadler S J, Lafreniere R G, Willard H F, Ledbetter D H, McInnes R R, ;1991;Cytogenetics and cell genetics;56;178-81; 2055114
- Cloning and expression of rat histidase. Homology to two bacterial histidases and four phenylalanine ammonia-lyases.;Taylor R G, Lambert M A, Sexsmith E, Sadler S J, Ray P N, Mahuran D J, McInnes R R, ;1990;The Journal of biological chemistry;265;18192-9; 2120224
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