- preweaning lethality, incomplete penetrance / IMPC
- abnormal vitreous body morphology / IMPC
- decreased locomotor activity / IMPC
- abnormal retina vasculature morphology / IMPC
- abnormal freezing behavior / IMPC
- persistence of hyaloid vascular system / IMPC
- abnormal retina blood vessel morphology / IMPC
C3H/HeH.C57BL/6J-Pde6b+Pcsk1mpc242H/H
| Status | Available to order |
| EMMA ID | EM:16009 |
| Citation information | RRID:IMSR_EM:16009 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 | C3H/HeH.C57BL/6J-Pde6b+Pcsk1mpc242H/H |
| Alternative name | C3H/HeH.C57BL/6J-Pde6b<+>Pcsk1 |
| Strain type | Induced Mutant Strains |
| Allele/Transgene symbol | Pcsk1mpc242H |
| Gene/Transgene symbol | Pcsk1 |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This strain carries a G to T point mutation that results in the amino acid substitution of leucine for valine at position 96 in Pcsk1. Homozygous mice display hyperproinsulinemia and early-onset obesity phenotype. |
| Phenotypic information | Homozygous mice display hyperproinsulinemia and early-onset obesity phenotype. |
| Breeding history | MUTA-G1-C3PDE/517.1c is an offspring of "sighted" C3H female (i.e. the congenic C3H stock carrying the BALB/c version of the Pde6b gene) mated to C57BL/6J male that received ENU. Congenic on C3H/HeH |
| References |
|
| 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
- Obesity due to prohormone convertase I deficiency / Orphanet_71528
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- increased white adipose tissue amount / MGI
- hypoglycemia / MGI
- enlarged spleen / MGI
- increased body weight / MGI
- obese / MGI
- decreased body weight / MGI
- polyphagia / MGI
- chronic diarrhea / MGI
- reduced fertility / MGI
- abnormal spleen white pulp morphology / MGI
- abnormal spleen marginal zone morphology / MGI
- decreased circulating glucagon level / MGI
- decreased circulating insulin level / MGI
- abnormal hormone level / MGI
- transmission ratio distortion / MGI
- increased skeletal muscle mass / MGI
- decreased skeletal muscle mass / MGI
- decreased testis weight / MGI
- decreased mean systemic arterial blood pressure / MGI
- increased lymphocyte cell number / MGI
- decreased T cell number / MGI
- diarrhea / MGI
- decreased circulating growth hormone level / MGI
- decreased adrenocorticotropin level / MGI
- abnormal metabolism / MGI
- abnormal glucose tolerance / MGI
- impaired glucose tolerance / MGI
- insulin resistance / MGI
- abnormal inguinal fat pad morphology / MGI
- homeostasis/metabolism phenotype / MGI
- increased susceptibility to diet-induced obesity / MGI
- increased circulating leptin level / MGI
- decreased NK T cell number / MGI
- abnormal T-helper 1 cell differentiation / MGI
- decreased follicular dendritic cell number / MGI
- abnormal peritoneal macrophage morphology / MGI
- intermingled spleen red and white pulp / MGI
- slow postnatal weight gain / MGI
- increased circulating tumor necrosis factor level / MGI
- increased circulating interferon-gamma level / MGI
- increased circulating interleukin-10 level / MGI
- increased circulating interleukin-6 level / MGI
- increased circulating interleukin-12 level / MGI
- increased circulating interleukin-1 beta level / MGI
- increased interleukin-1 beta secretion / MGI
- increased susceptibility to endotoxin shock / MGI
- increased sensitivity to xenobiotic induced morbidity/mortality / MGI
- postnatal lethality, incomplete penetrance / MGI
- embryonic lethality before implantation, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
Literature references
- Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.;Potter Paul K, Bowl Michael R, Jeyarajan Prashanthini, Wisby Laura, Blease Andrew, Goldsworthy Michelle E, Simon Michelle M, Greenaway Simon, Michel Vincent, Barnard Alun, Aguilar Carlos, Agnew Thomas, Banks Gareth, Blake Andrew, Chessum Lauren, Dorning Joanne, Falcone Sara, Goosey Laurence, Harris Shelley, Haynes Andy, Heise Ines, Hillier Rosie, Hough Tertius, Hoslin Angela, Hutchison Marie, King Ruairidh, Kumar Saumya, Lad Heena V, Law Gemma, MacLaren Robert E, Morse Susan, Nicol Thomas, Parker Andrew, Pickford Karen, Sethi Siddharth, Starbuck Becky, Stelma Femke, Cheeseman Michael, Cross Sally H, Foster Russell G, Jackson Ian J, Peirson Stuart N, Thakker Rajesh V, Vincent Tonia, Scudamore Cheryl, Wells Sara, El-Amraoui Aziz, Petit Christine, Acevedo-Arozena Abraham, Nolan Patrick M, Cox Roger, Mallon Anne-Marie, Brown Steve D M, ;2016;Nature communications;7;12444; 27534441
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).
