IMPC phenotypes (allele matching)
C57BL/6N-Hellstm1b(EUCOMM)Wtsi/Ieg
| Status | Available to order |
| EMMA ID | EM:08093 |
| International strain name | C57BL/6N-Hellstm1b(EUCOMM)Wtsi/Ieg |
| Alternative name | EPD0102_4_A04 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Hellstm1b(EUCOMM)Wtsi |
| Gene/Transgene symbol | Hells |
| 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 | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | This mouse line originates from EUCOMM ES clone EPD0102_4_A04. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele (Gt(ROSA)26Sor |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | heterozygous C57BL/6NTacUSA |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- ICF syndrome / Orphanet_2268
IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
- dilated heart left ventricle / IMPC
- decreased heart rate / IMPC
- decreased circulating cholesterol level / IMPC
- decreased monocyte cell number / IMPC
- decreased circulating triglyceride level / IMPC
- increased cardiac stroke volume / IMPC
- abnormal gait / IMPC
- decreased circulating LDL cholesterol level / IMPC
- increased CD8-positive, alpha-beta T cell number / IMPC
MGI phenotypes (gene matching)
- delayed bone ossification / MGI
- decreased bone mineral density / MGI
- osteoporosis / MGI
- abnormal long bone epiphysis morphology / MGI
- kyphosis / MGI
- hypoglycemia / MGI
- decreased cell proliferation / MGI
- alopecia / MGI
- abnormal tibia morphology / MGI
- small spleen / MGI
- small thymus / MGI
- atelectasis / MGI
- hyperkeratosis / MGI
- decreased body weight / MGI
- abnormal gait / MGI
- thymus hypoplasia / MGI
- respiratory failure / MGI
- abnormal coat/hair pigmentation / MGI
- abnormal axial skeleton morphology / MGI
- abnormal kidney morphology / MGI
- abnormal renal tubule morphology / MGI
- dilated renal tubules / MGI
- short tibia / MGI
- small kidney / MGI
- abnormal thoracic vertebrae morphology / MGI
- short femur / MGI
- paternal imprinting / MGI
- decreased cellular sensitivity to gamma-irradiation / MGI
- delayed endochondral bone ossification / MGI
- abnormal chromosome morphology / MGI
- abnormal long bone morphology / MGI
- premature aging / MGI
- abnormal chromosome number / MGI
- increased renal tubule apoptosis / MGI
- renal tubular necrosis / MGI
- abnormal proximal convoluted tubule morphology / MGI
- decreased B cell number / MGI
- increased double-negative T cell number / MGI
- cachexia / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- decreased subcutaneous adipose tissue amount / MGI
- decreased embryo weight / MGI
- decreased fetal weight / MGI
- decreased birth weight / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI