IMPC phenotypes (gene matching)
B6.129P2-Park7tm1Dsp/Cnbc
| Status | Available to order |
| EMMA ID | EM:06382 |
| International strain name | B6.129P2-Park7tm1Dsp/Cnbc |
| Alternative name | DJ1 |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Park7tm1Dsp |
| Gene/Transgene symbol | Park7 |
Information from provider
| Provider | Tak W Mak |
| Provider affiliation | Mak Lab, Campbell Family Breast Cancer reseach Institute |
| Genetic information | A targeting construct in which DJ-1 exons 3-5 were replaced with a neomycin (Neo) selectable cassette. The first coding exon of DJ-1 was modified to contain a premature stop codon, resulting in a transcript corresponding to the first eight amino acids of the DJ-1 cDNA. |
| Phenotypic information | DJ-1-deficient mice that were viable, fertile, and showed no gross anatomical or neuronal abnormalities. Dopaminergic neuron numbers in the substantia nigra and fiber densities and dopamine levels in the striatum were normal. However, DJ-1-/- mice showed hypolocomotion when subjected to amphetamine challenge and increased striatal denervation and dopaminergic neuron loss induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). DJ-1-/-embryonic cortical neurons showed increased sensitivity to oxidative, but not nonoxidative, insults. |
| Breeding history | Backcrossed 10 times to C57BL/6. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | heterozygous C57BL/6J |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Young-onset Parkinson disease / Orphanet_2828
MGI phenotypes (allele matching)
- abnormal motor capabilities/coordination/movement / MGI
- neuron degeneration / MGI
- loss of dopaminergic neurons / MGI
- abnormal locus ceruleus morphology / MGI
- abnormal striatum morphology / MGI
- abnormal physiological response to xenobiotic / MGI
- abnormal behavioral response to xenobiotic / MGI
- decreased grip strength / MGI
- abnormal substantia nigra pars compacta morphology / MGI
MGI phenotypes (gene matching)
- weight loss / MGI
- abnormal stationary movement / MGI
- hypoactivity / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- short stride length / MGI
- abnormal motor coordination/balance / MGI
- impaired limb coordination / MGI
- absent long term depression / MGI
- abnormal dopamine level / MGI
- increased dopamine level / MGI
- abnormal motor capabilities/coordination/movement / MGI
- decreased vertical activity / MGI
- abnormal motor learning / MGI
- neuron degeneration / MGI
- loss of dopaminergic neurons / MGI
- abnormal locomotor activation / MGI
- abnormal neurotransmitter uptake / MGI
- nervous system phenotype / MGI
- abnormal locus ceruleus morphology / MGI
- abnormal striatum morphology / MGI
- bradykinesia / MGI
- behavior/neurological phenotype / MGI
- abnormal action potential / MGI
- abnormal physiological response to xenobiotic / MGI
- abnormal behavioral response to xenobiotic / MGI
- decreased grip strength / MGI
- abnormal cellular respiration / MGI
- abnormal tricarboxylic acid cycle / MGI
- increased susceptibility to dopaminergic neuron neurotoxicity / MGI
- abnormal substantia nigra pars compacta morphology / MGI
Literature references
- Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress.;Kim Raymond H, Smith Patrice D, Aleyasin Hossein, Hayley Shawn, Mount Matthew P, Pownall Scott, Wakeham Andrew, You-Ten Annick J, Kalia Suneil K, Horne Patrick, Westaway David, Lozano Andres M, Anisman Hymie, Park David S, Mak Tak W, ;2005;Proceedings of the National Academy of Sciences of the United States of America;102;5215-20; 15784737
- Loss of the Parkinson's disease-linked gene DJ-1 perturbs mitochondrial dynamics.;Irrcher I, Aleyasin H, Seifert E L, Hewitt S J, Chhabra S, Phillips M, Lutz A K, Rousseaux M W C, Bevilacqua L, Jahani-Asl A, Callaghan S, MacLaurin J G, Winklhofer K F, Rizzu P, Rippstein P, Kim R H, Chen C X, Fon E A, Slack R S, Harper M E, McBride H M, Mak T W, Park D S, ;2010;Human molecular genetics;19;3734-46; 20639397