IMPC phenotypes (gene matching)
B6.129-Gba1tm1Karl/Kctt
| Status | Available to order |
| EMMA ID | EM:02452 |
| Citation information | RRID:IMSR_EM:02452 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 | B6.129-Gba1tm1Karl/Kctt |
| Alternative name | Gba flox/flox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gba1tm1Karl |
| Gene/Transgene symbol | Gba1 |
Information from provider
| Provider | Stefan Karlsson |
| Provider affiliation | Institute of Laboratory Medicine, The Lund Strategic Center for Stem Cell Biology and Cell Therapy |
| Genetic information | Exons 9-11 of Gba1 (Gba or GCase) gene are flanked by loxP sites. The flox/flox mice are bred with Mx1-cre mice to enable deletion of the GCase exons 9-11 after birth, thereby maintaining GCase activity during development and avoiding disruption of the skin barrier. |
| Phenotypic information | Homozygous GCase flox/flox Mx1-cre+ mice will develop Gaucher disease type 1 after induction of the loxP system. Mice have normal lifespan. |
| Breeding history | Backcrossed for 11 generations. |
| References |
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Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
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
Literature references
- Murine models of acute neuronopathic Gaucher disease.;Enquist Ida Berglin, Lo Bianco Christophe, Ooka Andreas, Nilsson Eva, Månsson Jan-Eric, Ehinger Mats, Richter Johan, Brady Roscoe O, Kirik Deniz, Karlsson Stefan, ;2007;Proceedings of the National Academy of Sciences of the United States of America;104;17483-8; 17954912
- Effective cell and gene therapy in a murine model of Gaucher disease.;Enquist Ida Berglin, Nilsson Eva, Ooka Andreas, Månsson Jan-Eric, Olsson Karin, Ehinger Mats, Brady Roscoe O, Richter Johan, Karlsson Stefan, ;2006;Proceedings of the National Academy of Sciences of the United States of America;103;13819-24; 16954197