Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases predicted to be associated to Ppp1r1b by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Attention Deficit-Hyperactivity Disorder | Attention deficit hyperactivity disorder, Hyperactivity | OMIM:143465 | |
Kleine-Levin Syndrome | Transient global amnesia, Polydipsia, Confusion, Abnormal eating behavior, Sweet craving, Polypha... | ORPHA:33543 | |
Renal Glucosuria | Polyphagia, Polydipsia | OMIM:233100 | |
Type 1 Diabetes Mellitus | Polyphagia, Polydipsia | OMIM:222100 | |
Acquired Central Diabetes Insipidus | Polydipsia | ORPHA:95626 | |
Hereditary Central Diabetes Insipidus | Polydipsia | ORPHA:30925 | |
Senior-Loken Syndrome 4 | Polydipsia | OMIM:606996 | |
Central Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:178029 | |
Nephronophthisis 9 | Polydipsia | OMIM:613824 | |
Nephronophthisis-Like Nephropathy 2 | Polydipsia | OMIM:619468 | |
Teratoma, Pineal | Polydipsia | OMIM:273120 | |
Familial Cold Urticaria | Polydipsia | ORPHA:47045 | |
Brain-Lung-Thyroid Syndrome | Abnormal eating behavior, Short attention span, Abnormal drinking behavior, Hyperactivity, Compul... | ORPHA:209905 | |
Bardet-Biedl Syndrome 9 | Polyphagia, Polydipsia | OMIM:615986 | |
Ochoa Syndrome | Polydipsia | ORPHA:2704 | |
Bardet-Biedl Syndrome 17 | Polydipsia, Cognitive impairment | OMIM:615994 | |
Familial Hyperaldosteronism Type I | Polydipsia | ORPHA:403 | |
Nephronophthisis 4 | Polydipsia | OMIM:606966 | |
Hyperaldosteronism, Familial, Type Iii | Polydipsia | OMIM:613677 | |
Senior-Loken Syndrome 3 | Polydipsia | OMIM:606995 | |
Cystinosis | Polydipsia, Motor stereotypy | ORPHA:213 | |
Diabetes Insipidus, Nephrogenic, 2, Autosomal | Polydipsia | OMIM:125800 | |
Familial Hyperaldosteronism Type Iii | Polydipsia | ORPHA:251274 | |
Diabetes Insipidus, Nephrogenic, 1, X-Linked | Polydipsia | OMIM:304800 | |
Pediatric-Onset Graves Disease | Polyphagia, Polydipsia, Hyperactivity | ORPHA:525731 | |
East Syndrome | Salt craving, Polydipsia | ORPHA:199343 | |
Nephrogenic Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:223 | |
Nephronophthisis 1 | Polydipsia | OMIM:256100 | |
Primary Unilateral Adrenal Hyperplasia | Polydipsia | ORPHA:231580 | |
Senior-Boichis Syndrome | Aggressive behavior, Attention deficit hyperactivity disorder, Polydipsia, Agitation | ORPHA:84081 | |
Apparent Mineralocorticoid Excess | Polydipsia | ORPHA:320 | |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome | Polydipsia | ORPHA:369929 | |
Nephronophthisis 11 | Polydipsia | OMIM:613550 | |
Whipple Disease | Polydipsia, Anorexia | ORPHA:3452 | |
Senior-Loken Syndrome 1 | Polydipsia | OMIM:266900 | |
Septo-Optic Dysplasia Spectrum | Polydipsia | ORPHA:3157 | |
Nephronophthisis 3 | Polydipsia | OMIM:604387 | |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 | Polydipsia | OMIM:617994 | |
Renal Hypoplasia | Polydipsia | ORPHA:93101 | |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance | Salt craving, Polydipsia | OMIM:612780 | |
Helix Syndrome | Polydipsia | OMIM:617671 | |
Infantile Nephropathic Cystinosis | Polydipsia, Cognitive impairment | ORPHA:411629 | |
Pituitary Dermoid And Epidermoid Cysts | Polydipsia | ORPHA:91351 | |
Hyperparathyroidism, Neonatal Severe | Polydipsia | OMIM:239200 | |
Wolfram Syndrome | Dementia, Polydipsia | ORPHA:3463 | |
Panhypophysitis | Polydipsia | ORPHA:95513 | |
Gitelman Syndrome | Salt craving, Polydipsia | OMIM:263800 | |
Oligomeganephronia | Polydipsia | ORPHA:2260 | |
Toxic Epidermal Necrolysis | Polydipsia, Dysphagia | ORPHA:537 | |
Rabson-Mendenhall Syndrome | Polydipsia | ORPHA:769 | |
Erdheim-Chester Disease | Polydipsia | ORPHA:35687 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Self-injurious behavior, Polydipsia, Polyphagia, Aggressive behavior, Compulsive behaviors | ORPHA:293987 | |
Hyperparathyroidism-Jaw Tumor Syndrome | Polydipsia, Dysphagia | ORPHA:99880 | |
Parathyroid Carcinoma | Polydipsia, Dysphagia | ORPHA:143 | |
Cystinosis, Nephropathic | Progressive neurologic deterioration, Polydipsia, Dysphagia | OMIM:219800 | |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease | Polydipsia | ORPHA:93111 | |
Distal Renal Tubular Acidosis | Polydipsia | ORPHA:18 | |
Arima Syndrome | Polydipsia | OMIM:243910 | |
Juvenile Nephropathic Cystinosis | Polydipsia | ORPHA:411634 | |
Autosomal Recessive Polycystic Kidney Disease | Polydipsia, Cognitive impairment | ORPHA:731 | |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness | Polydipsia | OMIM:602522 | |
Gitelman Syndrome | Salt craving, Polydipsia | ORPHA:358 | |
Proximal Renal Tubular Acidosis | Polydipsia | ORPHA:47159 | |
Bartter Syndrome, Type 2, Antenatal | Polydipsia | OMIM:241200 | |
Hypomagnesemia 3, Renal | Polydipsia | OMIM:248250 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ppp1r1btm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Ppp1r1btm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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