IMPC phenotypes (allele matching)
C57BL/6NTac-Gba1em1(IMPC)H/H
| Status | Only small colony available |
| EMMA ID | EM:16392 |
| Citation information | RRID:IMSR_EM:16392 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 | C57BL/6NTac-Gba1em1(IMPC)H/H |
| Alternative name | |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Gba1em1(IMPC)H |
| Gene/Transgene symbol | Gba1 |
Information from provider
| Provider | Mary Lyon Centre at MRC Harwell |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This mouse line originates from CRISPR zygote microinjection. For further details see the project page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Gaucher disease type 3 / Orphanet_77261
- Gaucher disease type 2 / Orphanet_77260
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome / Orphanet_2072
- Fetal Gaucher disease / Orphanet_85212
- Gaucher disease type 1 / Orphanet_77259
MGI phenotypes (gene matching)
- decreased hematocrit / MGI
- decreased leukocyte cell number / MGI
- enlarged liver / MGI
- abnormal liver physiology / MGI
- abnormal spleen morphology / MGI
- reddish skin / MGI
- abnormal skin condition / MGI
- wrinkled skin / MGI
- thick epidermis / MGI
- hyperkeratosis / MGI
- decreased body weight / MGI
- dehydration / MGI
- aphagia / MGI
- cyanosis / MGI
- anemia / MGI
- abnormal inflammatory response / MGI
- liver inflammation / MGI
- lung inflammation / MGI
- abnormal respiration / MGI
- perinatal lethality / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal pulmonary circulation / MGI
- abnormal lymph node morphology / MGI
- abnormal macrophage morphology / MGI
- increased IgG level / MGI
- akinesia / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- increased circulating alanine transaminase level / MGI
- increased liver weight / MGI
- astrocytosis / MGI
- decreased skin turgor / MGI
- dry skin / MGI
- lymph node inflammation / MGI
- increased hepatocyte apoptosis / MGI
- abnormal striatum morphology / MGI
- skin inflammation / MGI
- increased spleen weight / MGI
- decreased circulating cholesterol level / MGI
- increased circulating aspartate transaminase level / MGI
- skeleton phenotype / MGI
- abnormal food intake / MGI
- abnormal enzyme/coenzyme activity / MGI
- abnormal Kupffer cell morphology / MGI
- alpha-synuclein inclusion body / MGI
- abnormal spleen physiology / MGI
- decreased survivor rate / MGI
- lipofuscinosis / MGI
- absent gastric milk in neonates / MGI
- decreased birth weight / MGI
- decreased birth body size / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI