IMPC phenotypes (gene matching)
B6.129S1-Gnastm2Kel/H
| Status | Available to order |
| EMMA ID | EM:02392 |
| Citation information | RRID:IMSR_EM:02392 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 | B6.129S1-Gnastm2Kel/H |
| Alternative name | Gnastm2Kel/NE-D26(B6) |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gnastm2Kel |
| Gene/Transgene symbol | Gnas |
Information from provider
| Provider | Gavin Kelsey |
| Provider affiliation | The Babraham Institute, Babraham, Cambridge, CB2 4PB |
| Genetic information | A loxP-flanked cassette containing neo:URA:tACE-Cre replaced the start codon of the reading frame for the Nesp55 protein within exon 2 of the Nesp transcript in the Gnas imprinted locus. The neo:URA:tACE-Cre cassette was excised on passage of the allele through the male germline, leaving an allele in which the translation start codon of Nesp55 was deleted and replaced by a loxP site. This targeted allele has been shown to represent a null for Nesp55 protein. |
| Phenotypic information | None. There is a behavioural phenotype: response to novel environments as measured through activity in various tasks. |
| References |
|
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
- Cushing syndrome due to macronodular adrenal hyperplasia / Orphanet_189427
- Polyostotic fibrous dysplasia / Orphanet_93276
- Monostotic fibrous dysplasia / Orphanet_93277
- McCune-Albright syndrome / Orphanet_562
- Pseudohypoparathyroidism type 1A / Orphanet_79443
- Pseudopseudohypoparathyroidism / Orphanet_79445
- Progressive osseous heteroplasia / Orphanet_2762
- Pseudohypoparathyroidism type 1B / Orphanet_94089
- Pseudohypoparathyroidism type 1C / Orphanet_79444
MGI phenotypes (gene matching)
- abnormal adipose tissue morphology / MGI
- increased brown adipose tissue amount / MGI
- increased white adipose tissue amount / MGI
- decreased bone mineral density / MGI
- decreased circulating calcium level / MGI
- decreased circulating phosphate level / MGI
- delayed kidney development / MGI
- tremors / MGI
- weakness / MGI
- skin lesions / MGI
- decreased body length / MGI
- abnormal body weight / MGI
- obese / MGI
- decreased body weight / MGI
- ataxia / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- no spontaneous movement / MGI
- abnormal response to new environment / MGI
- abnormal eating behavior / MGI
- abnormal suckling behavior / MGI
- abnormal posture / MGI
- abnormal coat appearance / MGI
- impaired righting response / MGI
- impaired balance / MGI
- increased circulating triglyceride level / MGI
- increased circulating phosphate level / MGI
- postnatal growth retardation / MGI
- decreased brown adipose tissue amount / MGI
- decreased white adipose tissue amount / MGI
- edema / MGI
- skin edema / MGI
- abnormal inflammatory response / MGI
- respiratory distress / MGI
- abnormal skin morphology / MGI
- abnormal motor capabilities/coordination/movement / MGI
- abnormal glucose homeostasis / MGI
- increased circulating insulin level / MGI
- prenatal lethality / MGI
- postnatal lethality / MGI
- abnormal kidney morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal outer ear morphology / MGI
- small heart / MGI
- hydrops fetalis / MGI
- decreased circulating triglyceride level / MGI
- decreased circulating glucagon level / MGI
- decreased circulating insulin level / MGI
- decreased heart weight / MGI
- increased insulin sensitivity / MGI
- increased circulating parathyroid hormone level / MGI
- decreased circulating parathyroid hormone level / MGI
- abnormal brown adipose tissue morphology / MGI
- decreased urine osmolality / MGI
- no phenotypic analysis / MGI
- short femur / MGI
- genetic imprinting / MGI
- maternal imprinting / MGI
- paternal imprinting / MGI
- insensitivity to parathyroid hormone / MGI
- decreased alcohol consumption / MGI
- nervous system phenotype / MGI
- abnormal response/metabolism to endogenous compounds / MGI
- abnormal hypodermis morphology / MGI
- abnormal imprinting / MGI
- abnormal gas homeostasis / MGI
- abnormal body size / MGI
- increased lean body mass / MGI
- decreased lean body mass / MGI
- abnormal cerebellar cortex morphology / MGI
- decreased circulating cholesterol level / MGI
- increased oxygen consumption / MGI
- decreased oxygen consumption / MGI
- improved glucose tolerance / MGI
- impaired glucose tolerance / MGI
- insulin resistance / MGI
- abnormal fat pad morphology / MGI
- homeostasis/metabolism phenotype / MGI
- cellular phenotype / MGI
- behavior/neurological phenotype / MGI
- abnormal heart size / MGI
- decreased percent body fat/body weight / MGI
- increased circulating glucose level / MGI
- decreased circulating glucose level / MGI
- abnormal enzyme/coenzyme activity / MGI
- decreased circulating leptin level / MGI
- increased circulating leptin level / MGI
- decreased body mass index / MGI
- increased body mass index / MGI
- slow postnatal weight gain / MGI
- decreased survivor rate / MGI
- abnormal DNA methylation / MGI
- increased carbon dioxide production / MGI
- increased basal metabolism / MGI
- increased brown fat cell lipid droplet size / MGI
- decreased epididymal fat pad weight / MGI
- increased interscapular fat pad weight / MGI
- decreased interscapular fat pad weight / MGI
- absent gastric milk in neonates / MGI
- abnormal blood homeostasis / MGI
- increased birth weight / MGI
- decreased birth weight / MGI
- increased birth body size / MGI
- decreased birth body size / MGI
- increased total body fat amount / MGI
- decreased total body fat amount / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- increased circulating ghrelin level / MGI
- increased food intake / MGI
- thymus cortex atrophy / MGI
- ectopic bone / MGI
- increased muscle cell glucose uptake / MGI
- increased urine dopamine level / MGI
- increased urine noradrenaline level / MGI
- decreased urine noradrenaline level / MGI
Literature references
- Imprinted Nesp55 influences behavioral reactivity to novel environments.;Plagge Antonius, Isles Anthony R, Gordon Emma, Humby Trevor, Dean Wendy, Gritsch Sabine, Fischer-Colbrie Reiner, Wilkinson Lawrence S, Kelsey Gavin, ;2005;Molecular and cellular biology;25;3019-26; 15798190