- decreased leukocyte cell number / IMPC
- decreased body length / IMPC
- decreased erythrocyte cell number / IMPC
- increased circulating alkaline phosphatase level / IMPC
- decreased circulating chloride level / IMPC
- increased mean corpuscular hemoglobin / IMPC
- decreased circulating sodium level / IMPC
- increased circulating amylase level / IMPC
C57BL/6N-Kmt2dtm1.2(IMPC)Wtsi/WtsiCnbc
Status | Available to order |
EMMA ID | EM:14428 |
Citation information | RRID:IMSR_EM:14428 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/6N-Kmt2dtm1.2(IMPC)Wtsi/WtsiCnbc |
Alternative name | BEPD0099_C03 |
Strain type | |
Allele/Transgene symbol | Kmt2dtm1.2(IMPC)Wtsi |
Gene/Transgene symbol | Kmt2d |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
Provider | Wellcome Trust Sanger Institute |
Provider affiliation | Wellcome Trust Sanger Institute |
Genetic information | This mouse line originates from undef ES clone BEPD0099_C03. For further details on the construction of this clone see the page at the IMPC portal. ES cells were generated using the CRISPR/Cas9 technology. The details of the applied experimental procedures involving CRISPR/Cas9 technology are not available. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Animals used for archiving | heterozygous C57BL/6N males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Kabuki syndrome / Orphanet_2322
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome / Orphanet_589856
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- decreased circulating chloride level / IMPC
- decreased body length / IMPC
- increased circulating alkaline phosphatase level / IMPC
- decreased erythrocyte cell number / IMPC
- increased circulating amylase level / IMPC
- decreased circulating sodium level / IMPC
- decreased leukocyte cell number / IMPC
- increased mean corpuscular hemoglobin / IMPC
MGI phenotypes (gene matching)
- short maxilla / MGI
- flattened snout / MGI
- abnormal dentate gyrus morphology / MGI
- decreased body weight / MGI
- abnormal object recognition memory / MGI
- abnormal inner ear canal morphology / MGI
- abnormal hippocampus granule cell layer / MGI
- impaired contextual conditioning behavior / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- impaired spatial learning / MGI
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