- abnormal hair follicle morphology / MGI
- alopecia / MGI
- sparse hair / MGI
- delayed hair appearance / MGI
- tremors / MGI
- abnormal cerebellum external granule cell layer morphology / MGI
- abnormal cerebellar granule layer morphology / MGI
- wrinkled skin / MGI
- epidermal hyperplasia / MGI
- hyperkeratosis / MGI
- decreased body length / MGI
- decreased body size / MGI
- circling / MGI
- abnormal gait / MGI
- postnatal lethality / MGI
- premature death / MGI
- no abnormal phenotype detected / MGI
- decreased brain weight / MGI
- oxidative stress / MGI
- abnormal hair follicle development / MGI
- increased circulating ammonia level / MGI
- abnormal circulating amino acid level / MGI
- hearing/vestibular/ear phenotype / MGI
- vision/eye phenotype / MGI
- abnormal enzyme/coenzyme activity / MGI
- abnormal cerebellar granule cell migration / MGI
- abnormal Bergmann glial cell morphology / MGI
- neonatal lethality, complete penetrance / MGI
- increased circulating citrulline level / MGI
- decreased circulating arginine level / MGI
C.129P2(B6)-Ass1tm1.1Ekoe/Cnbc
| Status | Available to order |
| EMMA ID | EM:05208 |
| Citation information | RRID:IMSR_EM:05208 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 | C.129P2(B6)-Ass1tm1.1Ekoe/Cnbc |
| Alternative name | ASS flox/flox Balb/c |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Ass1tm1.1Ekoe |
| Gene/Transgene symbol | Ass1 |
Information from provider
| Provider | Wouter Lamers |
| Provider affiliation | Maastricht University |
| Genetic information | BALB/c (original mutant mouse backcrossed for more than 10 generations). |
| Phenotypic information | No phenotype as flox/flox. Phenotype depends on the specific cre recombinase crossing. Homozygous knock-out mice have same phenotype as classical argininosuccinate synthetase 1 (Ass1) knock-out. Ass1 plays an essential role in the urea cycle, and in local arginine synthesis (kidney, macrophages, endothelial cells). |
| Breeding history | Backcrossed to BALB/c for more than 10 generations, now bred as Ass1 flox/flox BALB/c X Ass1 flox/flox BALB/c. |
| References | None available |
| 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 | homozygous BALB/c males, homozygous BALB/c females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Adult-onset citrullinemia type I / Orphanet_247573
- Acute neonatal citrullinemia type I / Orphanet_247546
MGI phenotypes (gene matching)
Information on how we integrate external resources can be found here
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