MGI phenotypes (allele matching)
STOCK Hgdaku/Orl
| Status | Available to order |
| EMMA ID | EM:01766 |
| Citation information | RRID:IMSR_EM:01766 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 Hgdaku/Orl |
| Alternative name | alkaptonuria |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Hgdaku |
| Gene/Transgene symbol | Hgd |
Information from provider
| Provider | Xavier Montagutelli |
| Provider affiliation | Institut Pasteur |
| Genetic information | Hgdaku mouse mutation was found to be a single base change in a splice donor consensus sequence, causing exon skipping and frame-shifted products. |
| Phenotypic information | Affected mice show high levels of urinary homogentisic acid without signs of ochronosis or arthritis. |
| Breeding history | Maintained in homozygous state (brother x sister matings). |
| References |
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Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | homozygous BALB/c males, wild-type BALB/c females |
| Stage of embryos | Blastocyst |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Alkaptonuria / Orphanet_56
Literature references
- aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16.;Montagutelli X, Lalouette A, Coudé M, Kamoun P, Forest M, Guénet J L, ;1994;Genomics;19;9-11; 8188247
- Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.;Manning K, Fernández-Cañón J M, Montagutelli X, Grompe M, ;1999;Human mutation;13;171; 10094559