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 Ksr2 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 1) | Truncal obesity | DECIPHER:14 | |
Prader-Willi Syndrome (Type 2) | Truncal obesity | DECIPHER:53 | |
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 | |
Obesity Due To Melanocortin 4 Receptor Deficiency | Childhood-onset truncal obesity, Obesity, Increased adipose tissue | ORPHA:71529 | |
Summitt Syndrome | Obesity | OMIM:272350 | |
Adiposis Dolorosa | Obesity, Painful subcutaneous lipomas | OMIM:103200 | |
Dysplasia Epiphysealis Hemimelica | Overgrowth | OMIM:127800 | |
Narcolepsy Type 1 | Obesity | ORPHA:2073 | |
Bardet-Biedl Syndrome 18 | Obesity | OMIM:615995 | |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy | Truncal obesity, Obesity, Large for gestational age | OMIM:240900 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 | Obesity | OMIM:619058 | |
Autism, Susceptibility To, X-Linked 6 | Obesity | OMIM:300872 | |
Body Mass Index Quantitative Trait Locus 20 | Obesity, Tall stature | OMIM:618406 | |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome | Large for gestational age | ORPHA:356996 | |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome | Obesity | ORPHA:436141 | |
Bardet-Biedl Syndrome 10 | Obesity | OMIM:615987 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type | Obesity | OMIM:309585 | |
Hyperinsulinemic Hypoglycemia, Familial, 1 | Large for gestational age | OMIM:256450 | |
Cortisone Reductase Deficiency 2 | Obesity | OMIM:614662 | |
Coronary Artery Disease, Autosomal Dominant, 1 | Obesity | OMIM:608320 | |
Ankylosing Vertebral Hyperostosis With Tylosis | Obesity | ORPHA:2206 | |
Adenocarcinoma Of The Esophagus | Obesity | ORPHA:99976 | |
Short Stature Due To Primary Acid-Labile Subunit Deficiency | Truncal obesity | ORPHA:140941 | |
Obesity And Hypopigmentation | Overgrowth, Obesity | OMIM:620195 | |
Simpson-Golabi-Behmel Syndrome, Type 2 | Inguinal hernia, Obesity | OMIM:300209 | |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome | Hernia of the abdominal wall, Obesity | ORPHA:3055 | |
Hyperinsulinemic Hypoglycemia, Familial, 2 | Large for gestational age | OMIM:601820 | |
Bardet-Biedl Syndrome 5 | Obesity | OMIM:615983 | |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome | Truncal obesity, Childhood-onset truncal obesity | OMIM:610156 | |
Prolactin Deficiency With Obesity And Enlarged Testes | Obesity | OMIM:264120 | |
Syndromic X-Linked Intellectual Disability 7 | Obesity | ORPHA:85274 | |
Hernández-Aguirre Negrete Syndrome | Obesity | ORPHA:2139 | |
Obesity Due To Prohormone Convertase I Deficiency | Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue | ORPHA:71528 | |
Obesity Due To Pro-Opiomelanocortin Deficiency | Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue | ORPHA:71526 | |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies | Truncal obesity | OMIM:300471 | |
Intellectual Developmental Disorder, X-Linked 91 | Obesity | OMIM:300577 | |
Microduplication Xp11.22P11.23 Syndrome | Obesity | ORPHA:217377 | |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency | Obesity | ORPHA:171706 | |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities | Obesity | OMIM:620270 | |
Bardet-Biedl Syndrome 22 | Obesity, Large for gestational age | OMIM:617119 | |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome | Obesity | ORPHA:88643 | |
Obesity-Hypoventilation Syndrome | Obesity | OMIM:257500 | |
Polycystic Ovary Syndrome 1 | Obesity | OMIM:184700 | |
11P15.4 Microduplication Syndrome | Obesity | ORPHA:300305 | |
Hypogonadotropic Hypogonadism 27 Without Anosmia | Obesity | OMIM:619755 | |
Xq27.3Q28 Duplication Syndrome | Truncal obesity, Failure to thrive | ORPHA:261483 | |
Cortisone Reductase Deficiency 1 | Obesity | OMIM:604931 | |
Nephronophthisis 15 | Obesity | OMIM:614845 | |
Obesity, Hyperphagia, And Developmental Delay | Obesity | OMIM:613886 | |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features | Failure to thrive in infancy, Obesity | OMIM:613670 | |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 | Class III obesity | OMIM:616418 | |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures | Obesity | OMIM:618725 | |
Bardet-Biedl Syndrome 16 | Obesity | OMIM:615993 | |
Bardet-Biedl Syndrome 7 | Obesity | OMIM:615984 | |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers | Obesity | ORPHA:276630 | |
Trisomy 5P | Obesity | ORPHA:1742 | |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures | Obesity | OMIM:616756 | |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 | Truncal obesity, Abdominal obesity | OMIM:618160 | |
Coenzyme Q10 Deficiency, Primary, 2 | Overweight, Obesity | OMIM:614651 | |
Bardet-Biedl Syndrome 8 | Obesity | OMIM:615985 | |
Chromosome Xq21 Deletion Syndrome | Obesity | OMIM:303110 | |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency | Obesity | ORPHA:329249 | |
Biemond Syndrome Type 2 | Obesity | ORPHA:141333 | |
Bardet-Biedl Syndrome 4 | Obesity | OMIM:615982 | |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders | Overweight | OMIM:620065 | |
Summitt Syndrome | Camptodactyly of finger, Tall stature, Obesity | ORPHA:3210 | |
Morm Syndrome | Truncal obesity | ORPHA:75858 | |
Morbid Obesity And Spermatogenic Failure | Obesity | OMIM:615703 | |
Hypothyroidism, Central, With Testicular Enlargement | Overweight | OMIM:300888 | |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome | Obesity | ORPHA:521390 | |
Leptin Deficiency Or Dysfunction | Obesity | OMIM:614962 | |
Retinal Dystrophy And Obesity | Obesity | OMIM:616188 | |
Mehmo Syndrome | Small for gestational age, Obesity | OMIM:300148 | |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies | Obesity | OMIM:606772 | |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 | Obesity | OMIM:300238 | |
Bardet-Biedl Syndrome 2 | Obesity | OMIM:615981 | |
11Q22.2Q22.3 Microdeletion Syndrome | Obesity | ORPHA:444002 | |
Bardet-Biedl Syndrome 21 | Overweight, Obesity | OMIM:617406 | |
Borjeson-Forssman-Lehmann Syndrome | Obesity | OMIM:301900 | |
Temple Syndrome | Small for gestational age, Overweight, Flexion contracture, Obesity, Truncal obesity | OMIM:616222 | |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis | Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... | OMIM:618363 | |
Immunodeficiency 61 | Obesity | OMIM:300310 | |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome | Truncal obesity, Camptodactyly of finger | ORPHA:2928 | |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome | Lipoma, Obesity | ORPHA:480907 | |
Mehmo Syndrome | Obesity | ORPHA:85282 | |
Retinitis Pigmentosa | Atypical scarring of skin, Obesity | ORPHA:791 | |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome | Obesity | ORPHA:2233 | |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome | Truncal obesity | ORPHA:85280 | |
Bardet-Biedl Syndrome 3 | Obesity | OMIM:600151 | |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy | Truncal obesity, Large for gestational age | ORPHA:293964 | |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome | Truncal obesity | ORPHA:2429 | |
Intellectual Developmental Disorder, Autosomal Dominant 39 | Obesity | OMIM:616521 | |
Hydrocephalus-Obesity-Hypogonadism Syndrome | Obesity | ORPHA:2183 | |
Rafiq Syndrome | Truncal obesity, Flexion contracture, Obesity | OMIM:614202 | |
Laurence-Moon Syndrome | Obesity | OMIM:245800 | |
Prader-Willi Syndrome Due To Imprinting Mutation | Obesity | ORPHA:177910 | |
Baralle-Macken Syndrome | Obesity | OMIM:619255 | |
Beta-Mercaptolactate Cysteine Disulfiduria | Umbilical hernia, Obesity | ORPHA:1035 | |
Pseudopseudohypoparathyroidism | Enamel hypoplasia, Obesity | OMIM:612463 | |
Lipodystrophy, Familial Partial, Type 6 | Abdominal obesity, Lipodystrophy | OMIM:615980 | |
Hepatic Veno-Occlusive Disease | Increased body weight | ORPHA:890 | |
Pseudohypoparathyroidism, Type Ib | Obesity | OMIM:603233 | |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome | Keloids, Obesity | ORPHA:3085 | |
Chung-Jansen Syndrome | Obesity | OMIM:617991 | |
Obesity Due To Sim1 Deficiency | Obesity | ORPHA:369873 | |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome | Obesity | ORPHA:352530 | |
X-Linked Intellectual Disability, Shashi Type | Obesity | ORPHA:85286 | |
Atkin-Flaitz Syndrome | Obesity | ORPHA:1193 | |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development | Obesity | OMIM:618124 | |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion | Obesity | ORPHA:254525 | |
Congenital Myopathy 9A | Obesity | OMIM:618822 | |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly | Obesity | OMIM:615633 | |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome | Obesity | ORPHA:397973 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Obesity | OMIM:601794 | |
Clark-Baraitser Syndrome | Obesity | OMIM:617752 | |
Laurence-Moon Syndrome | Obesity | ORPHA:2377 | |
Ataxia-Oculomotor Apraxia Type 4 | Obesity | ORPHA:459033 | |
Wilson-Turner Syndrome | Truncal obesity | ORPHA:3459 | |
Wagr Syndrome | Obesity | ORPHA:893 | |
14Q11.2 Microduplication Syndrome | Obesity | ORPHA:261229 | |
Bardet-Biedl Syndrome 19 | Obesity | OMIM:615996 | |
Retinitis Pigmentosa 51 | Obesity | OMIM:613464 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Obesity | ORPHA:363741 | |
Body Mass Index Quantitative Trait Locus 19 | Obesity | OMIM:617885 | |
Bardet-Biedl Syndrome 9 | Truncal obesity, Obesity | OMIM:615986 | |
X-Linked Intellectual Disability, Stevenson Type | Obesity, Tall stature | ORPHA:85325 | |
Temple Syndrome | Small for gestational age, Obesity | ORPHA:254516 | |
Clark-Baraitser syndrome | Obesity, Tall stature | OMIM:300602 | |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities | Obesity | OMIM:619854 | |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome | Eunuchoid habitus, Obesity | ORPHA:2234 | |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome | Umbilical hernia, Obesity | ORPHA:171839 | |
Schaaf-Yang Syndrome | Failure to thrive in infancy, Flexion contracture, Obesity, Camptodactyly, Arthrogryposis multipl... | OMIM:615547 | |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 | Obesity | ORPHA:411515 | |
Chromosome Xq27.3-Q28 Duplication Syndrome | Abdominal obesity, Small for gestational age | OMIM:300869 | |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities | Obesity, Tall stature | OMIM:618089 | |
Spastic Paraplegia 11, Autosomal Recessive | Obesity | OMIM:604360 | |
Narcolepsy 7 | Obesity | OMIM:614250 | |
Idiopathic Intracranial Hypertension | Obesity | ORPHA:238624 | |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation | Obesity | ORPHA:254531 | |
Rhizomelic Limb Shortening With Dysmorphic Features | Obesity | OMIM:618821 | |
48,Xxyy Syndrome | Inguinal hernia, Abnormal dental enamel morphology, Tall stature, Obesity | ORPHA:10 | |
6Q16 Microdeletion Syndrome | Obesity | ORPHA:171829 | |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia | Obesity | OMIM:610628 | |
Intellectual Developmental Disorder, X-Linked 107 | Obesity | OMIM:301013 | |
Hypothyroidism, Congenital, Nongoitrous, 6 | Increased body mass index, Increased body weight | OMIM:614450 | |
13Q12.3 Microdeletion Syndrome | Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly | ORPHA:412035 | |
15Q24 Microdeletion Syndrome | Small for gestational age, Congenital diaphragmatic hernia, Obesity, Hernia, Failure to thrive | ORPHA:94065 | |
Subaortic Stenosis-Short Stature Syndrome | Inguinal hernia, Obesity | ORPHA:3191 | |
Chromosome 3Q29 Duplication Syndrome | Obesity | OMIM:611936 | |
Megalencephaly | Truncal obesity | ORPHA:2477 | |
Microtriplication 11Q24.1 | Obesity | ORPHA:289522 | |
Intellectual Developmental Disorder, Autosomal Recessive 13 | Truncal obesity | OMIM:613192 | |
Leptin Receptor Deficiency | Obesity | OMIM:614963 | |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 | Truncal obesity, Small for gestational age, Obesity | ORPHA:96184 | |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome | Obesity | ORPHA:464282 | |
Urban-Rogers-Meyer Syndrome | Flexion contracture of toe, Camptodactyly of finger, Obesity | ORPHA:3409 | |
Combined Oxidative Phosphorylation Deficiency 54 | Obesity | OMIM:619737 | |
Carpenter Syndrome | Umbilical hernia, Obesity | ORPHA:65759 | |
Bardet-Biedl Syndrome 6 | Obesity | OMIM:605231 | |
Shox-Related Short Stature | Obesity | ORPHA:314795 | |
Proprotein Convertase 1/3 Deficiency | Obesity | OMIM:600955 | |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome | Obesity | ORPHA:3077 | |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy | Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... | ORPHA:98855 | |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome | Abnormal dental enamel morphology, Obesity | ORPHA:2180 | |
Acth-Independent Macronodular Adrenal Hyperplasia 2 | Abdominal obesity, Increased body weight | OMIM:615954 | |
Intellectual Developmental Disorder, X-Linked 12 | Increased body mass index, Small for gestational age, Truncal obesity | OMIM:300957 | |
Chromosome 16P13.3 Deletion Syndrome, Proximal | Failure to thrive, Obesity | OMIM:610543 | |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive | Achilles tendon contracture, Obesity | OMIM:615418 | |
Congenital Analbuminemia | Small for gestational age, Lipodystrophy, Obesity | ORPHA:86816 | |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 | Flexion contracture, Wrist flexion contracture, Obesity | OMIM:300055 | |
X-Linked Emery-Dreifuss Muscular Dystrophy | Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... | ORPHA:98863 | |
Emery-Dreifuss Muscular Dystrophy | Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... | ORPHA:261 | |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy | Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... | ORPHA:98853 | |
Xp22.13P22.2 Duplication Syndrome | Umbilical hernia, Truncal obesity, Congenital diaphragmatic hernia | ORPHA:284180 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Increased body weight | ORPHA:276608 | |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies | Obesity | OMIM:619056 | |
X-Linked Intellectual Disability, Hedera Type | Obesity | ORPHA:93952 | |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome | Increased body weight | ORPHA:589905 | |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities | Obesity, Tall stature | OMIM:618430 | |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome | Obesity | ORPHA:464288 | |
Cornelia De Lange Syndrome 5 | Truncal obesity | OMIM:300882 | |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome | Reduced subcutaneous adipose tissue, Truncal obesity, Flexion contracture of digit | ORPHA:3041 | |
Macrocephaly/Autism Syndrome | Overgrowth, Obesity, Large for gestational age | OMIM:605309 | |
Senior-Loken Syndrome 9 | Obesity | OMIM:616629 | |
Acrodysostosis 2 With Or Without Hormone Resistance | Obesity | OMIM:614613 | |
Chromosome 2Q37 Deletion Syndrome | Obesity | OMIM:600430 | |
Perrault Syndrome 4 | Disproportionate tall stature, Obesity | OMIM:615300 | |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome | Obesity | OMIM:194072 | |
Distal 16P11.2 Microdeletion Syndrome | Obesity | ORPHA:261222 | |
Pseudopseudohypoparathyroidism | Obesity | ORPHA:79445 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type | Disproportionate tall stature, Abdominal obesity, Camptodactyly | OMIM:301039 | |
Joubert Syndrome 37 | Obesity | OMIM:619185 | |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly | Obesity | OMIM:615630 | |
Ataxia-Oculomotor Apraxia 4 | Obesity | OMIM:616267 | |
Abdominal Obesity-Metabolic Syndrome 4 | Obesity | OMIM:618620 | |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum | Overgrowth, Obesity | OMIM:620250 | |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities | Obesity | OMIM:620191 | |
Tatton-Brown-Rahman Syndrome | Umbilical hernia, Proportionate tall stature, Obesity | ORPHA:404443 | |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive | Small for gestational age, Increased body weight | OMIM:274300 | |
Morgagni-Stewart-Morel Syndrome | Obesity | ORPHA:77296 | |
Momo Syndrome | Overgrowth, Obesity, Tall stature, Large for gestational age | ORPHA:2563 | |
Insulin-Like Growth Factor I, Resistance To | Reduced subcutaneous adipose tissue, Truncal obesity, Lipodystrophy, Decreased body weight | OMIM:270450 | |
Luscan-Lumish Syndrome | Overgrowth, Obesity | OMIM:616831 | |
Laron Syndrome | Truncal obesity | ORPHA:633 | |
Congenital-Onset Steinert Myotonic Dystrophy | Obesity, Decreased body weight | ORPHA:589821 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type | Abdominal obesity | OMIM:300354 | |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair | Obesity | OMIM:609734 | |
48,Xxxy Syndrome | Inguinal hernia, Abnormal dental enamel morphology, Tall stature, Obesity | ORPHA:96263 | |
Abdominal Obesity-Metabolic Syndrome 3 | Truncal obesity, Abdominal obesity | OMIM:615812 | |
Pseudohypoparathyroidism, Type Ic | Enamel hypoplasia, Obesity | OMIM:612462 | |
Smith-Magenis Syndrome | Failure to thrive in infancy, Obesity | ORPHA:819 | |
19P13.12 Microdeletion Syndrome | Arthrogryposis multiplex congenita, Obesity | ORPHA:254346 | |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency | Truncal obesity, Failure to thrive, Small for gestational age | ORPHA:73272 | |
Pde4D Haploinsufficiency Syndrome | Abnormal dental enamel morphology, Obesity | ORPHA:439822 | |
Blue Diaper Syndrome | Increased body weight | ORPHA:94086 | |
Radio-Tartaglia Syndrome | Obesity | OMIM:619312 | |
Carpenter Syndrome 1 | Omphalocele, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of the hand | OMIM:201000 | |
Pseudohypoparathyroidism, Type Ia | Enamel hypoplasia, Obesity | OMIM:103580 | |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation | Overgrowth, Small for gestational age, Large for gestational age | ORPHA:254534 | |
Ring Chromosome Y Syndrome | Obesity | ORPHA:261529 | |
Man1B1-Cdg | Truncal obesity | ORPHA:397941 | |
Kleefstra Syndrome Due To 9Q34 Microdeletion | Inguinal hernia, Failure to thrive, Femoral hernia, Obesity | ORPHA:96147 | |
Proximal 16P11.2 Microdeletion Syndrome | Failure to thrive, Obesity, Congenital diaphragmatic hernia | ORPHA:261197 | |
Momo Syndrome | Overgrowth, Obesity | OMIM:157980 | |
Joubert Syndrome 8 | Obesity | OMIM:612291 | |
Metaphyseal Chondrodysplasia, Schmid Type | Obesity | ORPHA:174 | |
Adiposis Dolorosa | Obesity | ORPHA:36397 | |
Bdv Syndrome | Obesity | OMIM:619326 | |
2Q37 Microdeletion Syndrome | Umbilical hernia, Obesity, Congenital diaphragmatic hernia | ORPHA:1001 | |
X-Linked Intellectual Disability, Cabezas Type | Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity | ORPHA:85293 | |
Mody | Overweight, Obesity, Large for gestational age | ORPHA:552 | |
Desbuquois Dysplasia 1 | Obesity | OMIM:251450 | |
Retinitis Pigmentosa 74 | Obesity | OMIM:616562 | |
Bardet-Biedl Syndrome 17 | Obesity | OMIM:615994 | |
Obesity Due To Congenital Leptin Deficiency | Obesity | ORPHA:66628 | |
Rabin-Pappas Syndrome | Overgrowth, Obesity, Failure to thrive in infancy | OMIM:620155 | |
Borjeson-Forssman-Lehmann Syndrome | Camptodactyly of toe, Truncal obesity | ORPHA:127 | |
Den Hoed-De Boer-Voisin Syndrome | Overweight, Obesity, Decreased body weight, Enamel hypoplasia, Amelogenesis imperfecta | OMIM:619229 | |
Retinal Dystrophy With Or Without Macular Staphyloma | Truncal obesity | OMIM:617547 | |
Angelman Syndrome Due To A Point Mutation | Obesity | ORPHA:411511 | |
Müllerian Aplasia And Hyperandrogenism | Obesity | ORPHA:247768 | |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 | Obesity | OMIM:618395 | |
Obesity Due To Leptin Receptor Gene Deficiency | Obesity | ORPHA:179494 | |
Pituitary Adenoma 4, Acth-Secreting | Abdominal obesity, Obesity | OMIM:219090 | |
8P23.1 Microdeletion Syndrome | Obesity, Congenital diaphragmatic hernia, Weight loss | ORPHA:251071 | |
Low Phospholipid-Associated Cholelithiasis | Overweight, Obesity | ORPHA:69663 | |
Marbach-Schaaf Neurodevelopmental Syndrome | Obesity | OMIM:619680 | |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities | Hip contracture, Elbow flexion contracture, Obesity | OMIM:618493 | |
White-Sutton Syndrome | Failure to thrive, Obesity, Congenital diaphragmatic hernia | OMIM:616364 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Overweight, Small for gestational age, Obesity | ORPHA:26793 | |
Bardet-Biedl Syndrome | Obesity | ORPHA:110 | |
Silver-Russell Syndrome | Failure to thrive in infancy, Obesity, Cachexia | ORPHA:813 | |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities | Obesity | OMIM:618443 | |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome | Truncal obesity | ORPHA:3224 | |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia | Obesity | OMIM:608624 | |
Paternal Uniparental Disomy Of Chromosome 1 | Abnormal dental enamel morphology, Obesity | ORPHA:251004 | |
Down Syndrome | Umbilical hernia, Obesity | ORPHA:870 | |
Smith-Magenis Syndrome | Increased body weight | OMIM:182290 | |
Generalized Pustular Psoriasis | Overweight, Obesity | ORPHA:247353 | |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity | Obesity | OMIM:617296 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type | Increased body weight | OMIM:300860 | |
Angelman Syndrome | Obesity | OMIM:105830 | |
Sim1-Related Prader-Willi-Like Syndrome | Abdominal obesity, Failure to thrive, Obesity | ORPHA:398079 | |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion | Obesity | ORPHA:98794 | |
3Q29 Microduplication Syndrome | Camptodactyly of toe, Obesity | ORPHA:251038 | |
Achondroplasia | Obesity | ORPHA:15 | |
Kleefstra Syndrome 1 | Obesity | OMIM:610253 | |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome | Obesity | ORPHA:2235 | |
White-Sutton Syndrome | Ventral hernia, Inguinal hernia, Obesity, Congenital diaphragmatic hernia | ORPHA:468678 | |
Pruritic Urticarial Papules And Plaques Of Pregnancy | Increased body weight | ORPHA:64745 | |
Wilson Disease | Failure to thrive, Increased body weight, Weight loss | ORPHA:905 | |
Kleefstra Syndrome | Obesity, Hernia | ORPHA:261494 | |
Septo-Optic Dysplasia Spectrum | Obesity | ORPHA:3157 | |
Cohen Syndrome | Small for gestational age, Childhood-onset truncal obesity | OMIM:216550 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Increased body weight, Large for gestational age | ORPHA:263455 | |
Cntnap2-Related Developmental And Epileptic Encephalopathy | Obesity | ORPHA:163681 | |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease | Abdominal obesity, Dorsocervical fat pad, Increased body weight | ORPHA:189427 | |
Acth-Independent Macronodular Adrenal Hyperplasia | Truncal obesity | OMIM:219080 | |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency | Obesity | ORPHA:209902 | |
Pigmented Nodular Adrenocortical Disease, Primary, 2 | Truncal obesity | OMIM:610475 | |
Peripartum Cardiomyopathy | Obesity | ORPHA:563 | |
Bardet-Biedl Syndrome 12 | Obesity | OMIM:615989 | |
Monosomy 13Q34 | Obesity | ORPHA:96168 | |
Wagro Syndrome | Obesity | OMIM:612469 | |
Autosomal Recessive Spastic Paraplegia Type 11 | Overweight, Obesity | ORPHA:2822 | |
Bardet-Biedl Syndrome 1 | Truncal obesity, Abdominal obesity, Obesity | OMIM:209900 | |
Prader-Willi Syndrome | Abdominal obesity, Failure to thrive in infancy, Obesity | OMIM:176270 | |
Angelman Syndrome | Obesity | ORPHA:72 | |
Ulnar-Mammary Syndrome | Hernia of the abdominal wall, Camptodactyly of finger, Obesity | ORPHA:3138 | |
Cohen Syndrome | Failure to thrive in infancy, Obesity | ORPHA:193 | |
Microcephalic Primordial Dwarfism, Dauber Type | Obesity | ORPHA:319675 | |
Insulinoma | Increased body weight | ORPHA:97279 | |
Pigmented Nodular Adrenocortical Disease, Primary, 4 | Increased body weight | OMIM:615830 | |
Webb-Dattani Syndrome | Obesity | OMIM:615926 | |
Magel2-Related Prader-Willi-Like Syndrome | Failure to thrive, Flexion contracture, Increased body weight, Abdominal obesity | ORPHA:398069 | |
Combined Oxidative Phosphorylation Deficiency 15 | Inguinal hernia, Obesity | OMIM:614947 | |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 | Failure to thrive, Small for gestational age, Obesity | ORPHA:98754 | |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion | Failure to thrive, Small for gestational age, Obesity | ORPHA:98793 | |
Short Stature, Microcephaly, And Endocrine Dysfunction | Truncal obesity, Inguinal hernia | OMIM:616541 | |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 | Failure to thrive, Small for gestational age, Obesity | ORPHA:177904 | |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 | Failure to thrive, Small for gestational age, Obesity | ORPHA:177901 | |
Diamond-Blackfan Anemia 21 | Obesity | OMIM:620072 | |
Sotos Syndrome | Overgrowth, Increased body weight, Tall stature | OMIM:117550 | |
Neutral Lipid Storage Disease With Ichthyosis | Obesity | ORPHA:98907 | |
Xylt1-Cdg | Truncal obesity | ORPHA:370930 | |
7Q11.23 Microduplication Syndrome | Inguinal hernia, Obesity, Congenital diaphragmatic hernia | ORPHA:96121 | |
Chops Syndrome | Obesity | OMIM:616368 | |
Aromatase Deficiency | Eunuchoid habitus, Obesity, Tall stature | ORPHA:91 | |
Dysbetalipoproteinemia | Obesity | ORPHA:412 | |
Pigmented Nodular Adrenocortical Disease, Primary, 1 | Truncal obesity | OMIM:610489 | |
Alstrom Syndrome | Truncal obesity | OMIM:203800 | |
Kallmann Syndrome | Obesity | ORPHA:478 | |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation | Truncal obesity, Obesity | ORPHA:466950 | |
Desbuquois Dysplasia 2 | Truncal obesity | OMIM:615777 | |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes | Dentinogenesis imperfecta, Obesity | OMIM:619269 | |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome | Obesity | ORPHA:369837 | |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness | Obesity | OMIM:250420 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies | Umbilical hernia, Obesity | OMIM:301066 | |
Prader-Willi Syndrome Due To Translocation | Obesity | ORPHA:177907 | |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies | Inguinal hernia, Obesity | OMIM:618653 | |
Intellectual Developmental Disorder, Autosomal Dominant 29 | Obesity | OMIM:616078 | |
Distal Deletion 12Q | Elbow flexion contracture, Proportionate tall stature, Failure to thrive in infancy, Obesity | ORPHA:96149 | |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii | Truncal obesity | ORPHA:2637 | |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii | Truncal obesity, Enamel hypoplasia | OMIM:210720 | |
Pseudohypoparathyroidism Type 1C | Enamel hypoplasia, Obesity | ORPHA:79444 | |
Sheehan Syndrome | Obesity | ORPHA:91355 | |
Adrenocortical Carcinoma | Increased body weight, Weight loss | ORPHA:1501 | |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome | Failure to thrive, Obesity | ORPHA:369950 | |
Kabuki Syndrome | Failure to thrive, Obesity, Congenital diaphragmatic hernia | ORPHA:2322 | |
Bloom Syndrome | Adipose tissue loss, Abdominal obesity, Small for gestational age | ORPHA:125 | |
Helsmoortel-Van Der Aa Syndrome | Truncal obesity, Failure to thrive, Obesity | OMIM:615873 | |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis | Truncal obesity, Flexion contracture, Limb joint contracture | OMIM:301072 | |
Bardet-Biedl Syndrome 20 | Obesity | OMIM:619471 | |
Thyrotoxic Periodic Paralysis | Obesity, Weight loss | ORPHA:79102 | |
Gaisböck Syndrome | Overweight, Obesity | ORPHA:90041 | |
Pseudohypoparathyroidism Type 1A | Enamel hypoplasia, Obesity | ORPHA:79443 | |
1P21.3 Microdeletion Syndrome | Obesity | ORPHA:293948 | |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome | Obesity | ORPHA:466943 | |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities | Overweight, Failure to thrive, Obesity, Decreased body weight | OMIM:619475 | |
Prader-Willi Syndrome | Abdominal obesity, Failure to thrive | ORPHA:739 | |
Craniopharyngioma | Obesity | ORPHA:54595 | |
22Q11.2 Deletion Syndrome | Inguinal hernia, Abnormal dental enamel morphology, Obesity, Umbilical hernia, Failure to thrive | ORPHA:567 | |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency | Failure to thrive, Increased body weight | ORPHA:264580 | |
Adnp Syndrome | Umbilical hernia, Inguinal hernia, Truncal obesity | ORPHA:404448 | |
Myhre Syndrome | Small for gestational age, Obesity, Camptodactyly | OMIM:139210 | |
Beckwith-Wiedemann Syndrome | Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Large for gestational age, Obesity... | ORPHA:116 | |
White-Kernohan Syndrome | Obesity | OMIM:619426 | |
Cushing Disease | Truncal obesity, Abdominal obesity, Dorsocervical fat pad, Increased body weight | ORPHA:96253 | |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency | Increased body weight | ORPHA:79240 | |
Xq21 Microdeletion Syndrome | Obesity | ORPHA:1435 | |
6Q Terminal Deletion Syndrome | Failure to thrive, Obesity | ORPHA:75857 | |
Insulin-Resistance Syndrome Type B | Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss | ORPHA:2298 | |
17Q24.2 Microdeletion Syndrome | Truncal obesity, Failure to thrive in infancy | ORPHA:529962 | |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 | Obesity | OMIM:614231 | |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome | Obesity | ORPHA:444077 | |
Lysinuric Protein Intolerance | Truncal obesity, Failure to thrive | OMIM:222700 | |
Meningioma | Obesity | ORPHA:2495 | |
Monosomy 22Q13.3 | Umbilical hernia, Obesity | ORPHA:48652 | |
Neutral Lipid Storage Myopathy | Obesity | ORPHA:98908 | |
Rubinstein-Taybi Syndrome 1 | Small for gestational age, Flexion contracture, Truncal obesity, Keloids, Enamel hypoplasia, Fail... | OMIM:180849 | |
Carpenter Syndrome 2 | Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture | OMIM:614976 | |
1P36 Deletion Syndrome | Failure to thrive, Camptodactyly of finger, Obesity | ORPHA:1606 | |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures | Failure to thrive, Obesity | OMIM:617157 | |
45,X/46,Xy Mixed Gonadal Dysgenesis | Obesity | ORPHA:1772 | |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion | Keloids, Failure to thrive, Obesity | ORPHA:353281 | |
Turner Syndrome Due To Structural X Chromosome Anomalies | Atypical scarring of skin, Failure to thrive in infancy, Obesity | ORPHA:99413 | |
Turner Syndrome | Atypical scarring of skin, Failure to thrive in infancy, Obesity | ORPHA:881 | |
Mosaic Monosomy X | Atypical scarring of skin, Failure to thrive in infancy, Obesity | ORPHA:99228 | |
Monosomy X | Atypical scarring of skin, Failure to thrive in infancy, Obesity | ORPHA:99226 | |
Hellp Syndrome | Increased body weight | ORPHA:244242 | |
Ulnar-Mammary Syndrome | Inguinal hernia, Elbow flexion contracture, Obesity | OMIM:181450 | |
Chronic Thromboembolic Pulmonary Hypertension | Obesity | ORPHA:70591 | |
Tako-Tsubo Cardiomyopathy | Obesity | ORPHA:66529 | |
Witteveen-Kolk Syndrome | Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Contracture... | OMIM:613406 | |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency | Keloids, Failure to thrive, Obesity, Corneal scarring | ORPHA:353284 | |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations | Keloids, Failure to thrive, Obesity, Corneal scarring | ORPHA:353277 | |
Williams Syndrome | Inguinal hernia, Failure to thrive in infancy, Abnormal dental enamel morphology, Obesity, Umbili... | ORPHA:904 | |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies | Abdominal obesity, Flexion contracture | OMIM:619321 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Obesity | ORPHA:293987 | |
Chromosome 1P36 Deletion Syndrome, Distal | Obesity, Camptodactyly of finger, Camptodactyly | OMIM:607872 | |
Digeorge Syndrome | Umbilical hernia, Inguinal hernia, Femoral hernia, Obesity | OMIM:188400 | |
Williams-Beuren Syndrome | Inguinal hernia, Failure to thrive in infancy, Flexion contracture, Obesity, Umbilical hernia | OMIM:194050 | |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb | Truncal obesity, Failure to thrive, Camptodactyly | OMIM:612474 | |
Cushing Syndrome Due To Ectopic Acth Secretion | Dorsocervical fat pad, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity | ORPHA:99889 | |
Cornelia De Lange Syndrome | Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia | ORPHA:199 | |
Carney Complex | Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature | ORPHA:1359 | |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 | Obesity | OMIM:309580 | |
Pallister-Killian Syndrome | Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... | OMIM:601803 | |
Primrose Syndrome | Hip contracture, Flexion contracture, Truncal obesity, Knee flexion contracture | OMIM:259050 | |
Alström Syndrome | Truncal obesity, Dorsocervical fat pad, Obesity | ORPHA:64 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ksr2tm45131(L1L2_gt0) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Ksr2tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Ksr2tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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