MGI phenotypes (allele matching)
STOCK Hgdaku/Orl
| Status | Available to order |
| EMMA ID | EM:01766 |
| 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 |
|
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | homozygous BALB/c, wild-type BALB/c |
| 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