- kyphosis / IMPC
- decreased circulating LDL cholesterol level / IMPC
- decreased circulating HDL cholesterol level / IMPC
- abnormal heart morphology / IMPC
- enlarged heart / IMPC
- abnormal spleen morphology / IMPC
- enlarged spleen / IMPC
- enlarged lymph nodes / IMPC
- abnormal lens morphology / IMPC
- hyperactivity / IMPC
- increased startle reflex / IMPC
- limb grasping / IMPC
- abnormal sensory capabilities/reflexes/nociception / IMPC
- abnormal kidney morphology / IMPC
- decreased circulating triglyceride level / IMPC
- abnormal vitreous body morphology / IMPC
- decreased circulating insulin level / IMPC
- decreased vertical activity / IMPC
- short tibia / IMPC
- increased heart weight / IMPC
- decreased heart weight / IMPC
- increased circulating alkaline phosphatase level / IMPC
- increased coping response / IMPC
- increased erythrocyte cell number / IMPC
- decreased cardiac output / IMPC
- abnormal retinal inner nuclear layer morphology / IMPC
- abnormal bone structure / IMPC
- increased kidney weight / IMPC
- abnormal heart left ventricle morphology / IMPC
- increased lean body mass / IMPC
- decreased lean body mass / IMPC
- abnormal spine curvature / IMPC
- long tibia / IMPC
- abnormal behavior / IMPC
- decreased circulating cholesterol level / IMPC
- impaired glucose tolerance / IMPC
- decreased heart rate / IMPC
- decreased circulating glucose level / IMPC
- increased cardiac muscle contractility / IMPC
- increased prepulse inhibition / IMPC
- decreased total body fat amount / IMPC
- decreased grip strength / IMPC
- increased bone mineral content / IMPC
- decreased bone mineral content / IMPC
- decreased respiratory quotient / IMPC
- abnormal behavioral response to light / IMPC
- abnormal sleep behavior / IMPC
- increased fluid intake / IMPC
- decreased cardiac stroke volume / IMPC
- decreased total retina thickness / IMPC
- increased or absent threshold for auditory brainstem response / IMPC
C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/WtsiH
Status | Only small colony available |
EMMA ID | EM:14331 |
International strain name | C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/WtsiH |
Alternative name | EPD0025_5_A08 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Ap4e1tm1b(KOMP)Wtsi, |
Gene/Transgene symbol | Ap4e1 |
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 KOMP ES clone EPD0025_5_A08. 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 using a cell permeable HTN-Cre as described in doi:10.1007/s11248-013-9764-x. Click here for more information on KOMP final vectors. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Severe intellectual disability and progressive spastic paraplegia / Orphanet_280763
IMPC phenotypes (allele matching)
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