- preweaning lethality, complete penetrance / IMPC
- increased thigmotaxis / IMPC
- increased circulating LDL cholesterol level / IMPC
- decreased locomotor activity / IMPC
- increased grip strength / IMPC
- decreased exploration in new environment / IMPC
- decreased circulating creatinine level / IMPC
- decreased blood urea nitrogen level / IMPC
- abnormal behavior / IMPC
- decreased circulating serum albumin level / IMPC
- increased circulating cholesterol level / IMPC
- increased mean platelet volume / IMPC
- increased neutrophil cell number / IMPC
- corneal opacity / IMPC
- increased anxiety-related response / IMPC
- increased lean body mass / IMPC
C57BL/6N-Atm1Brd Ehmt1tm1a(EUCOMM)Hmgu/WtsiCnrm
Status | Available to order |
EMMA ID | EM:10184 |
Citation information | RRID:IMSR_EM:10184 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-Atm1Brd Ehmt1tm1a(EUCOMM)Hmgu/WtsiCnrm |
Alternative name | HEPD0734_3_F01 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Ehmt1tm1a(EUCOMM)Hmgu |
Gene/Transgene symbol | Ehmt1 |
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 EUCOMM ES clone HEPD0734_3_F01. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Kleefstra syndrome due to a point mutation / Orphanet_261652
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- abnormal nasal bone morphology / MGI
- malocclusion / MGI
- open neural tube / MGI
- abnormal social investigation / MGI
- increased anxiety-related response / MGI
- decreased anxiety-related response / MGI
- hypoactivity / MGI
- decreased exploration in new environment / MGI
- abnormal suckling behavior / MGI
- abnormal object recognition memory / MGI
- increased startle reflex / MGI
- incomplete somite formation / MGI
- postnatal growth retardation / MGI
- impaired synaptic plasticity / MGI
- abnormal associative learning / MGI
- abnormal sensory capabilities/reflexes/nociception / MGI
- no abnormal phenotype detected / MGI
- abnormal social/conspecific interaction / MGI
- decreased vertical activity / MGI
- enhanced paired-pulse facilitation / MGI
- delayed intramembranous bone ossification / MGI
- abnormal response to novel object / MGI
- abnormal metopic suture morphology / MGI
- embryonic growth retardation / MGI
- abnormal miniature excitatory postsynaptic currents / MGI
- abnormal dendrite morphology / MGI
- decreased survivor rate / MGI
- decreased embryo weight / MGI
- decreased fetal weight / MGI
- impaired contextual conditioning behavior / MGI
- impaired cued conditioning behavior / MGI
- absent gastric milk in neonates / MGI
- decreased birth body size / MGI
- abnormal dendritic spine morphology / MGI
- abnormal hippocampus pyramidal cell morphology / MGI
- prenatal growth retardation / MGI
- postnatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- abnormal epigenetic regulation of gene expression / MGI
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