STOCK Hgdaku/Orl

Status

Available to order

EMMA IDEM:01766
International strain nameSTOCK Hgdaku/Orl
Alternative namealkaptonuria
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolHgdaku
Gene/Transgene symbolHgd

Information from provider

ProviderXavier Montagutelli
Provider affiliationInstitut Pasteur
Genetic informationHgdaku mouse mutation was found to be a single base change in a splice donor consensus sequence, causing exon skipping and frame-shifted products.
Phenotypic informationAffected mice show high levels of urinary homogentisic acid without signs of ochronosis or arthritis.
Breeding historyMaintained in homozygous state (brother x sister matings).
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

Information from EMMA

Archiving centreInstitut de Transgenose, INTRAGENE, Orléans, France
Animals used for archivinghomozygous BALB/c, wild-type BALB/c
Stage of embryosBlastocyst

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • aminoaciduria / MGI
  • abnormal urine color / MGI
  • skeleton phenotype / MGI
MGI phenotypes (gene matching)
  • abnormal urine color / MGI
  • skeleton phenotype / MGI
  • homogentisic aciduria / MGI

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

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Availabilities

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

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).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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