Gene Summary

Name:
Kv channel interacting protein 3, calsenilin
Synonyms:
DREAM,  4933407H12Rik,  KChIP3,  R74849,  Csen

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Kcnip3tm2b(EUCOMM)Hmgu HOM   Early adult 9.55×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Kcnip3 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 Kcnip3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Tibial Hemimelia
Absent tibia OMIM:275220
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Geniospasm 1
Anxiety OMIM:190100
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Immunodeficiency 8
Hyperactivity OMIM:615401
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short hallux, Short metatarsal, Hallux varus, Hitchhiker thumb, Short distal phalanx of finger, S... OMIM:112450
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Huntington Disease-Like 2
Dementia, Depression, Apathy, Irritability, Anxiety OMIM:606438
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Ataxia, Hyperactivity, Mental deterioration OMIM:615924
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, A... ORPHA:2492
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment OMIM:615483
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Patella Aplasia-Hypoplasia
Patellar hypoplasia, Patellar aplasia OMIM:168860
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Pes planus, Talocalcaneal synostosis, Sandal gap, Wide capital fe... OMIM:147891
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foot morphology OMIM:236640
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Talipes... OMIM:607143
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Short thumb, Micro... OMIM:227270
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Progressive Supranuclear Palsy
Tremor, Dystonia, Dementia, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Unsteady... ORPHA:683
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivi... ORPHA:248111
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bones, Short palm... ORPHA:2502
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Aplasia/hypoplasia... ORPHA:356961
Weismann-Netter Syndrome
Squared iliac bones, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing OMIM:112350
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity OMIM:300983
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... ORPHA:3320
Omodysplasia 1
Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Short humerus, Limited knee flexio... OMIM:258315
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Hyperactivity ORPHA:2382
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Tremor, Ataxia, Dystonia OMIM:612716
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, ... ORPHA:228360
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Progressive psychomotor deterioration, Limb dystonia, Hyperactivity,... ORPHA:363400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic bone, Short ribs, Short long bone,... OMIM:617925
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Hitchhiker thumb, Rhizomelia, Sandal gap, Tibial bowing,... OMIM:108721
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Trigeminal Neuralgia
Allodynia ORPHA:221091
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Tibial bowing, Bowing of the legs, Abnorm... OMIM:307800
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Social and occupational deterioration, Hyperactivity, Memory impairme... ORPHA:98818
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Lower limb undergrowth, Abnormality of th... ORPHA:3035
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Clinodactyly of t... ORPHA:96334
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... ORPHA:85165
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Hyperactivity OMIM:618718
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Short th... OMIM:304120
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Hemidystonia, Cognitive impairment, Memory impairment, Attentio... ORPHA:1929
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Occipital Horn Syndrome
Hip dysplasia, Genu valgum, Large iliac wing, Absent tibia, Humerus varus, Pes planus, Down-slopi... ORPHA:198
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Hypoplastic scapulae, Shortening of all phal... OMIM:114290
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Intention tremor, Bradykinesia, Dysmetria, Hyperactivi... OMIM:610217
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity, Ment... ORPHA:35069
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Hyperactivity ORPHA:166108
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Campomelic Dysplasia
Hypoplastic inferior ilia, Bowing of the long bones, Tibial bowing, Short long bone, Fibular hypo... ORPHA:140
X-Linked Adrenoleukodystrophy
Dementia, Gait disturbance, Hyperactivity, Cognitive impairment, Attention deficit hyperactivity ... ORPHA:43
Myoclonic-Astatic Epilepsy
Tremor, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:1942
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Dementia, Gait disturbance, Ataxia, Motor deterioration, Hyperactivity, Mental... ORPHA:168491
Benign Schwannoma
Allodynia ORPHA:252164
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Seckel Syndrome 1
Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, Abnormal finger flexi... OMIM:210600
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Citrullinemia Type Ii
Hypoproteinemia, Tremor, Lethargy, Hypoalbuminemia, Hyperactivity, Memory impairment ORPHA:247585
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, Duplication of pha... OMIM:236680
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Progressive language deterioration OMIM:610042
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Femoral bowing, Hypoplasia of the radius, Foot olig... OMIM:276820
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Memory... ORPHA:139396
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Ataxia, Hyperactivity OMIM:601853
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Dystonia, Dementia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hype... OMIM:234200
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Hyperactivity OMIM:252920
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Mucopolysaccharidosis, Type Iiic
Motor deterioration, Hyperactivity OMIM:252930
Adenylosuccinase Deficiency
Inability to walk, Opisthotonus, Gait ataxia, Hyperactivity OMIM:103050
Angelman Syndrome
Progressive gait ataxia, Limb tremor, Broad-based gait, Hyperactivity OMIM:105830
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Fibular aplasia, Short sternum, Aplasia of the ulna, Short metacarpal, ... OMIM:266910
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Toe syndactyly, Hypoplastic iliac wing, Tubul... OMIM:211910
Cranioectodermal Dysplasia 1
Short toe, Triphalangeal hallux, Broad toe, Rhizomelia, Short humerus, Short distal phalanx of fi... OMIM:218330
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Hyperlysinemia
Tremor, Opisthotonus, Dysmetria, Hyperactivity, Tip-toe gait ORPHA:2203
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Camptodactyly, Flexion contracture of toe, Fibular hypoplasia, Ost... OMIM:300373
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Choreoacanthocytosis
Bradyphrenia, Blepharospasm, Head titubation, Resting tremor, Bradykinesia, Lingual dystonia, Lar... ORPHA:2388
Histidinemia
Hyperactivity ORPHA:2157
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Humeroradial synostosis, Short sternum, Mesomelia, Sho... ORPHA:3404
Kinsship Syndrome
Dislocated radial head, Polydactyly, Pes planus, Mesomelia, Fibular hypoplasia, Hip dislocation, ... OMIM:619297
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Fibular hypoplasia, Small hand, Micrognathia, Brachydactyly, Hypoplasia of proxi... ORPHA:444077

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 Kcnip3

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 Kcnip3.

No publications found that use IMPC mice or data for Kcnip3.

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MGI Allele Allele Type Produced
Kcnip3tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kcnip3tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice
Kcnip3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kcnip3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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