IMPC phenotypes (gene matching)
B6;CBA-Nf1em1Flmg/Flmg
| Status | Available to order |
| EMMA ID | EM:13081 |
| Citation information | RRID:IMSR_EM:13081 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;CBA-Nf1em1Flmg/Flmg |
| Alternative name | NF1 mutant |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Nf1em1Flmg |
| Gene/Transgene symbol | Nf1 |
Information from provider
| Provider | Transgenics Facility B.S.R.C. |
| Provider affiliation | B.S.R.C. "Alexander Fleming" |
| Genetic information | Mice with a mutated (possibly truncated) Nf1 protein were generated using CRISPR/Cas9 technology. The mutated protein is the result of a single nucleotide deletion that takes place at exon 38 close to the targeted mutated R1809C position. A guide sgRNA along with the wild-type Cas9 protein were introduced into mouse zygotes via pronuclear microinjections. |
| Phenotypic information | Homozygous:Embryonic lethalHeterozygous:No observable phenotype |
| Breeding history | The colony has been maintained by backcrossing Nf1 mutant heterozygous mice to C57BL/6J mice for two generations. |
| References | None available |
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | B.S.R.C. Alexander Fleming, Vari, Greece |
| Animals used for archiving | heterozygous C57BL/6 x CBA males, wild-type C57BL/6J females |
| Stage of embryos | Morula |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Juvenile myelomonocytic leukemia / Orphanet_86834
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion / Orphanet_363700
- Neurofibromatosis-Noonan syndrome / Orphanet_638
- Hereditary pheochromocytoma-paraganglioma / Orphanet_29072
- Pleomorphic rhabdomyosarcoma / Orphanet_293199
- Alveolar rhabdomyosarcoma / Orphanet_99756
- Embryonal rhabdomyosarcoma / Orphanet_99757
MGI phenotypes (gene matching)
- vasculature congestion / MGI
- abnormal heart development / MGI
- enlarged heart / MGI
- abnormal heart shape / MGI
- double outlet right ventricle / MGI
- abnormal heart valve morphology / MGI
- distended pericardium / MGI
- abnormal atrioventricular cushion morphology / MGI
- megacephaly / MGI
- delayed kidney development / MGI
- increased foot pad pigmentation / MGI
- delayed hepatic development / MGI
- liver hypoplasia / MGI
- pale liver / MGI
- delayed muscle development / MGI
- abnormal tongue morphology / MGI
- exencephaly / MGI
- paravertebral ganglia hyperplasia / MGI
- prevertebral ganglia hyperplasia / MGI
- enlarged chest / MGI
- microphthalmia / MGI
- impaired coordination / MGI
- abnormal spatial learning / MGI
- focal hepatic necrosis / MGI
- edema / MGI
- abnormal lymphatic vessel morphology / MGI
- hemorrhage / MGI
- neoplasm / MGI
- increased tumor incidence / MGI
- increased leukemia incidence / MGI
- increased lung adenocarcinoma incidence / MGI
- increased neurofibrosarcoma incidence / MGI
- increased adrenal gland tumor incidence / MGI
- increased pheochromocytoma incidence / MGI
- abnormal muscle morphology / MGI
- no abnormal phenotype detected / MGI
- disorganized myocardium / MGI
- hydrops fetalis / MGI
- abnormal mast cell physiology / MGI
- persistent truncus arteriosis / MGI
- abnormal vein morphology / MGI
- heart hypoplasia / MGI
- abnormal discrimination learning / MGI
- decreased circulating alanine transaminase level / MGI
- nervous system phenotype / MGI
- pallor / MGI
- increased atrioventricular cushion size / MGI
- liver hemorrhage / MGI
- decreased renal glomerulus number / MGI
- decreased eye pigmentation / MGI
- pericardial effusion / MGI
- abnormal myocardium layer morphology / MGI
- decreased lactate dehydrogenase level / MGI
- abnormal enzyme/coenzyme activity / MGI
- decreased circulating aspartate transaminase level / MGI
- abnormal fetal atrioventricular canal morphology / MGI
- increased mast cell degranulation / MGI
- skeletal muscle hypoplasia / MGI
- abnormal neural crest cell morphology / MGI
- increased hepatoma incidence / MGI
- increased neurofibroma incidence / MGI
- pleural effusion / MGI
- increased fibrosarcoma incidence / MGI
- ventricular septal defect / MGI
- abnormal mitral valve cusp morphology / MGI
- postnatal lethality, complete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- increased tail pigmentation / MGI
- increased ear pigmentation / MGI
- abnormal metanephros morphology / MGI
- increased lymphoma incidence / MGI