Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
kinase suppressor of ras 2
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ksr2 mutations

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.

No human diseases associated to this gene by orthology or annotation.

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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ksr2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ksr2.

No publications found that use IMPC mice or data for Ksr2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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