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 Sprn by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Triglyceride Storage Disease, Type Ii | Obesity | OMIM:190430 | |
Maturity-Onset Diabetes Of The Young, Type 11 | Overweight, Obesity | OMIM:613375 | |
Obesity | Increased waist to hip ratio, Obesity | OMIM:601665 | |
Spermatogenic Failure, X-Linked, 1 | Obesity | OMIM:305700 | |
Abdominal Obesity-Metabolic Syndrome 1 | Abdominal obesity | OMIM:605552 | |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 | Abdominal obesity | OMIM:605572 | |
Prader-Willi Syndrome (Type 2) | Truncal obesity | DECIPHER:53 | |
Prader-Willi syndrome (Type 1) | Truncal obesity | DECIPHER:14 | |
Bardet-Biedl Syndrome 11 | Obesity | OMIM:615988 | |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome | Obesity | ORPHA:1078 | |
Bardet-Biedl Syndrome 14 | Obesity | OMIM:615991 | |
Bardet-Biedl Syndrome 13 | Obesity | OMIM:615990 | |
Intellectual Developmental Disorder, X-Linked 97 | Obesity | OMIM:300803 | |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome | Large for gestational age | ORPHA:356996 | |
Summitt Syndrome | Obesity | OMIM:272350 | |
Hyperinsulinemic Hypoglycemia, Familial, 1 | Large for gestational age | OMIM:256450 | |
Hyperinsulinemic Hypoglycemia, Familial, 2 | Large for gestational age | OMIM:601820 | |
Narcolepsy Type 1 | Obesity | ORPHA:2073 | |
Bardet-Biedl Syndrome 18 | Obesity | OMIM:615995 | |
Body Mass Index Quantitative Trait Locus 20 | Obesity, Tall stature | OMIM:618406 | |
Autism, Susceptibility To, X-Linked 6 | Obesity | OMIM:300872 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 | Obesity | OMIM:619058 | |
Cortisone Reductase Deficiency 2 | Obesity | OMIM:614662 | |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy | Truncal obesity, Obesity, Large for gestational age | OMIM:240900 | |
Ankylosing Vertebral Hyperostosis With Tylosis | Obesity | ORPHA:2206 | |
Bardet-Biedl Syndrome 10 | Obesity | OMIM:615987 | |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome | Obesity | ORPHA:436141 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type | Obesity | OMIM:309585 | |
Prolactin Deficiency With Obesity And Enlarged Testes | Obesity | OMIM:264120 | |
Coronary Artery Disease, Autosomal Dominant, 1 | Obesity | OMIM:608320 | |
Obesity And Hypopigmentation | Overgrowth, Obesity | OMIM:620195 | |
Adenocarcinoma Of The Esophagus | Obesity | ORPHA:99976 | |
Microduplication Xp11.22P11.23 Syndrome | Obesity | ORPHA:217377 | |
Macrosomia-Microphthalmia-Cleft Palate Syndrome | Large for gestational age | ORPHA:2432 | |
Hernández-Aguirre Negrete Syndrome | Obesity | ORPHA:2139 | |
Adiposis Dolorosa | Obesity | OMIM:103200 | |
Bardet-Biedl Syndrome 5 | Obesity | OMIM:615983 | |
Obesity-Hypoventilation Syndrome | Obesity | OMIM:257500 | |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders | Overweight | OMIM:620065 | |
Obesity Due To Melanocortin 4 Receptor Deficiency | Childhood-onset truncal obesity, Obesity | ORPHA:71529 | |
Hypothyroidism, Central, With Testicular Enlargement | Overweight | OMIM:300888 | |
Polycystic Ovary Syndrome 1 | Obesity | OMIM:184700 | |
Hypogonadotropic Hypogonadism 27 Without Anosmia | Obesity | OMIM:619755 | |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome | Obesity | ORPHA:88643 | |
Bardet-Biedl Syndrome 22 | Obesity, Large for gestational age | OMIM:617119 | |
Growth Hormone Deficiency, Isolated Partial | Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... | OMIM:615925 | |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 | Class III obesity | OMIM:616418 | |
Cortisone Reductase Deficiency 1 | Obesity | OMIM:604931 | |
Obesity, Hyperphagia, And Developmental Delay | Obesity | OMIM:613886 | |
Nephronophthisis 15 | Obesity | OMIM:614845 | |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures | Obesity | OMIM:618725 | |
Hepatic Veno-Occlusive Disease | Increased body weight | ORPHA:890 | |
Obesity Due To Prohormone Convertase I Deficiency | Failure to thrive, Childhood-onset truncal obesity, Obesity | ORPHA:71528 | |
Obesity Due To Pro-Opiomelanocortin Deficiency | Failure to thrive, Childhood-onset truncal obesity, Obesity | ORPHA:71526 | |
Bardet-Biedl Syndrome 8 | Obesity | OMIM:615985 | |
Coenzyme Q10 Deficiency, Primary, 2 | Overweight, Obesity | OMIM:614651 | |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency | Obesity | ORPHA:329249 | |
Chromosome Xq21 Deletion Syndrome | Obesity | OMIM:303110 | |
Biemond Syndrome Type 2 | Obesity | ORPHA:141333 | |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome | Obesity | ORPHA:521390 | |
Leptin Deficiency Or Dysfunction | Obesity | OMIM:614962 | |
Retinal Dystrophy And Obesity | Obesity | OMIM:616188 | |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy | Truncal obesity, Large for gestational age | ORPHA:293964 | |
Hypothyroidism, Congenital, Nongoitrous, 6 | Increased body mass index, Increased body weight | OMIM:614450 | |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 | Obesity | OMIM:300238 | |
Bardet-Biedl Syndrome 2 | Obesity | OMIM:615981 | |
Bardet-Biedl Syndrome 3 | Obesity | OMIM:600151 | |
Pseudohypoparathyroidism, Type Ib | Obesity | OMIM:603233 | |
Laurence-Moon Syndrome | Obesity | OMIM:245800 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Increased body weight | ORPHA:276608 | |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive | Small for gestational age, Increased body weight | OMIM:274300 | |
Acth-Independent Macronodular Adrenal Hyperplasia 2 | Abdominal obesity, Increased body weight | OMIM:615954 | |
X-Linked Intellectual Disability, Shashi Type | Obesity | ORPHA:85286 | |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome | Increased body weight | ORPHA:589905 | |
Congenital Myopathy 9A | Obesity | OMIM:618822 | |
Narcolepsy 7 | Obesity | OMIM:614250 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Obesity | OMIM:601794 | |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation | Overgrowth, Small for gestational age, Large for gestational age | ORPHA:254534 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Obesity | ORPHA:363741 | |
Body Mass Index Quantitative Trait Locus 19 | Obesity | OMIM:617885 | |
Blue Diaper Syndrome | Increased body weight | ORPHA:94086 | |
Bardet-Biedl Syndrome 6 | Obesity | OMIM:605231 | |
Proprotein Convertase 1/3 Deficiency | Obesity | OMIM:600955 | |
Abcd Syndrome | Large for gestational age | OMIM:600501 | |
Wilson Disease | Failure to thrive, Increased body weight, Weight loss | ORPHA:905 | |
Smith-Magenis Syndrome | Increased body weight | OMIM:182290 | |
Pruritic Urticarial Papules And Plaques Of Pregnancy | Increased body weight | ORPHA:64745 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type | Increased body weight | OMIM:300860 | |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome | Obesity | OMIM:194072 | |
Abdominal Obesity-Metabolic Syndrome 4 | Obesity | OMIM:618620 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Increased body weight, Large for gestational age | ORPHA:263455 | |
Pigmented Nodular Adrenocortical Disease, Primary, 4 | Increased body weight | OMIM:615830 | |
Insulinoma | Increased body weight | ORPHA:97279 | |
Retinitis Pigmentosa 74 | Obesity | OMIM:616562 | |
Sotos Syndrome | Overgrowth, Increased body weight, Tall stature | OMIM:117550 | |
Adrenocortical Carcinoma | Increased body weight, Weight loss | ORPHA:1501 | |
Magel2-Related Prader-Willi-Like Syndrome | Abdominal obesity, Failure to thrive, Increased body weight | ORPHA:398069 | |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency | Failure to thrive, Increased body weight | ORPHA:264580 | |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease | Abdominal obesity, Increased body weight | ORPHA:189427 | |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency | Increased body weight | ORPHA:79240 | |
Insulin-Resistance Syndrome Type B | Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss | ORPHA:2298 | |
Hellp Syndrome | Increased body weight | ORPHA:244242 | |
Cushing Disease | Truncal obesity, Abdominal obesity, Increased body weight | ORPHA:96253 | |
Cushing Syndrome Due To Ectopic Acth Secretion | Truncal obesity, Abdominal obesity, Increased body weight, Weight loss | ORPHA:99889 | |
Carney Complex | Abdominal obesity, Increased body weight, Tall stature | ORPHA:1359 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Sprntm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Sprntm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Sprntm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | Mice, ES Cells |
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