IMPC phenotypes (gene matching)
C3H/HeH-OtpM1H/H
| Status | Available to order |
| EMMA ID | EM:15939 |
| Citation information | RRID:IMSR_EM:15939 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-OtpM1H/H |
| Alternative name | C3H/HeH-Otp |
| Strain type | Induced Mutant Strains |
| Allele/Transgene symbol | Otpm1H |
| Gene/Transgene symbol | Otp |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | The mutation originally occurred in the line known as Bigboy. The founder male (IVF/2786.3e) carries a single point mutation in the OTP gene. The molecular lesion is at base 490 in ENSMUST00000022195.11, which was mutated from a C to a T in the F1 founder, resulting in a missense amino acid substitution at residue 108, arginine (R) to tryptophan (W), p.R108W. |
| Breeding history | Congenic on C3H |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | no |
| 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
MGI phenotypes (gene matching)
- decreased brain size / MGI
- abnormal third ventricle morphology / MGI
- abnormal diencephalon morphology / MGI
- abnormal hypothalamus morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal dopaminergic neuron morphology / MGI
- abnormal neurohypophysis morphology / MGI
- abnormal hypothalamus physiology / MGI
- abnormal paraventricular hypothalamic nucleus morphology / MGI
- abnormal supraoptic nucleus morphology / MGI
- abnormal neurohypophysis median eminence morphology / MGI
- postnatal lethality, complete penetrance / MGI
Literature references
- Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.;Moir Lee, Bochukova Elena G, Dumbell Rebecca, Banks Gareth, Bains Rasneer S, Nolan Patrick M, Scudamore Cheryl, Simon Michelle, Watson Kimberly A, Keogh Julia, Henning Elana, Hendricks Audrey, O'Rahilly Stephen, Barroso Inês, null null, Sullivan Adrienne E, Bersten David C, Whitelaw Murray L, Kirsch Susan, Bentley Elizabeth, Farooqi I Sadaf, Cox Roger D, ;2017;Molecular metabolism;6;1419-1428; 29107289