IMPC phenotypes (gene matching)
B6.129-Gba1tm2Karl/Kctt
| Status | Available to order |
| EMMA ID | EM:02451 |
| Citation information | RRID:IMSR_EM:02451 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-Gba1tm2Karl/Kctt |
| Alternative name | gba lnl/wt |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gba1tm2Karl |
| 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 | A loxP-neo-loxP (lnl) cassette was inserted in intron 8 of the murine glucosylceramidase beta 1 (Gba1 or Gba) gene. |
| Phenotypic information | Homozygous lnl/lnl mice die at day 1 after birth due to dehydration. Lethal skin phenotype; lnl/lnl mice bred with K14 cre recombinase-expressing mice are rescued from the skin phenotype. |
| Breeding history | lnl/wt mice were backcrossed for 14 generations. |
| References |
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Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
| Stage of embryos | 2-cell |
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