STOCK Hal^his/H

Status	Available to order
EMMA ID	EM:05325
Citation information	RRID:IMSR_EM:05325 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	STOCK Hal^his/H
Alternative name	Histidinaemic
Strain type	Spontaneous
Allele/Transgene symbol	Hal^his
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	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
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 males, heterozygous females
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)

increased urine histidine level / MGI

MGI phenotypes (gene matching)

histidinuria / MGI

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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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
Tissue - Types of tissue, service fee and delivery time available upon request

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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STOCK Halhis/H