- 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 |
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 |
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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