IMPC phenotypes (gene matching)
C57BL/6NTac-Alms1tm1c(EUCOMM)Hmgu/H
| Status | Under development - register interest |
| EMMA ID | EM:16777 |
| Citation information | RRID:IMSR_EM:16777 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/6NTac-Alms1tm1c(EUCOMM)Hmgu/H |
| Alternative name | C57BL/6NTac-Alms1 |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Alms1 |
| Gene/Transgene symbol | Alms1 |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This line originates from ESC clone HEPD0522_6_G08, after breeding with a Flp recombinase deleter line to convert the original targeted allele tm1a (knock-out first allele) into a conditional allele tm1c. For further details on the construction of this clone see the page at the IMPC portal. |
| Phenotypic information | Homozygous:These mice are part of the International Mouse Phenotyping Consortium (IMPC) and will be phenotyped through a standardised phenotyping pipeline. Details of the pipeline and data, when available, can be viewed at www.mousephenotype.orgHeterozygous:These mice are part of the International Mouse Phenotyping Consortium (IMPC) and will be phenotyped through a standardised phenotyping pipeline. Details of the pipeline and data, when available, can be viewed at www.mousephenotype.org |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
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
- Alström syndrome / Orphanet_64
MGI phenotypes (gene matching)
- increased white adipose tissue amount / MGI
- abnormal circulating cholesterol level / MGI
- enlarged liver / MGI
- abnormal hepatocyte morphology / MGI
- small gonad / MGI
- seminiferous tubule degeneration / MGI
- abnormal spermatogenesis / MGI
- increased body weight / MGI
- obese / MGI
- increased body size / MGI
- retinal degeneration / MGI
- increased circulating triglyceride level / MGI
- increased circulating HDL cholesterol level / MGI
- hyperglycemia / MGI
- increased circulating insulin level / MGI
- abnormal seminiferous tubule morphology / MGI
- hepatic steatosis / MGI
- dilated renal tubules / MGI
- albuminuria / MGI
- increased urine protein level / MGI
- increased liver weight / MGI
- enlarged kidney / MGI
- liver fibrosis / MGI
- abnormal retinal outer nuclear layer morphology / MGI
- increased kidney weight / MGI
- abnormal proximal convoluted tubule morphology / MGI
- increased circulating cholesterol level / MGI
- abnormal eye physiology / MGI
- impaired glucose tolerance / MGI
- insulin resistance / MGI
- cellular phenotype / MGI
- increased susceptibility to weight gain / MGI
- pancreatic islet hyperplasia / MGI
- retinal pigment epithelium atrophy / MGI
- abnormal eye electrophysiology / MGI
- increased circulating leptin level / MGI
- increased fat cell size / MGI
- impaired hearing / MGI
- retinal photoreceptor degeneration / MGI
- retinal outer nuclear layer degeneration / MGI
- dilated proximal convoluted tubules / MGI
- degranulated pancreatic beta cells / MGI
- crystalluria / MGI
- increased total body fat amount / MGI
- abnormal renal tubule epithelial cell primary cilium morphology / MGI
- increased kidney apoptosis / MGI
- tubulointerstitial nephritis / MGI
- increased kidney cell proliferation / MGI
- increased food intake / MGI
- increased or absent threshold for auditory brainstem response / MGI
- increased fasted circulating glucose level / MGI