banner
Genes Phenotypes Help, News, Blog

Gene: Arih1 MGI:1344363

Log in to follow

Gene Summary

Name:
ariadne RBR E3 ubiquitin protein ligase 1
Synonyms:
UIP77

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased prepulse inhibition Arih1em1(IMPC)Tcp HET Early adult 2.63×10-07
embryonic lethality prior to organogenesis Arih1em1(IMPC)Tcp HOM   E9.5 0.00
hyperactivity Arih1em1(IMPC)Tcp HET   Early adult 5.51×10-10
increased exploration in new environment Arih1em1(IMPC)Tcp HET   Early adult 2.93×10-06
short tibia Arih1em1(IMPC)Tcp HET   Early adult 3.10×10-05
preweaning lethality, complete penetrance Arih1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal sternum morphology Arih1em1(IMPC)Tcp HET Early adult 0.00
decreased anxiety-related response Arih1em1(IMPC)Tcp HET   Early adult 8.57×10-05
abnormal skin morphology Arih1em1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder Arih1em1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

60 Images

View images
Eye Morphology

Images Ophthalmoscopy

100 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Gross Pathology and Tissue Collection

Images

11 Images

View images
Histopathology

Images

2 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Electrocardiogram (ECG)

Waveform Image

1 Images

View images
Gross Morphology Embryo E9.5

Images

4 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images

Human diseases caused by Arih1 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 Arih1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Osebold-Remondini Syndrome
Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ... ORPHA:2098
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Smith-Magenis syndrome
Motor stereotypy, Brachydactyly, Self-mutilation, Hyperactivity DECIPHER:8
Schizophrenia 15
Hyperactivity OMIM:613950
Leri-Weill Dyschondrosteosis
Mesomelia, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal meta... OMIM:127300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri... OMIM:612447
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Vesicoureteral reflux,... OMIM:619217
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... ORPHA:100973
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... ORPHA:208441
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Bruxism, Talipes equinovarus, Hyperactivity, Short foot, Hip dislocation OMIM:300434
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Hartnup Disorder
Neutral hyperaminoaciduria, Emotional lability, Attention deficit hyperactivity disorder, Hyperac... OMIM:234500
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, 11 pairs of ribs, Micrognathia, Fibular... OMIM:201170
Glycine Encephalopathy 1
Hyperglycinuria, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Bent Bone Dysplasia Syndrome 2
Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem... OMIM:620076
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Short finger, 2-3 toe syndactyly, Aggressive behavior, Pes p... OMIM:619467
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Stuve-Wiedemann Syndrome 1
Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes,... OMIM:601559
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:239500
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Intellectual Developmental Disorder, X-Linked 101
Clinodactyly, Hyperactivity OMIM:300928
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Abnormal rib... ORPHA:1988
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Phenylketonuria
Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid ... OMIM:261600
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Long fingers, Clinodactyly of the 5th finger, Motor stereotyp... OMIM:609425
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to ... OMIM:615516
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Talipes equinovalgus, Vesicoureteral reflux, Self-mutilation, External tibial torsion, Hyperactiv... OMIM:620445
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Tran... ORPHA:356961
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Sandal gap, Short tibia, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o... OMIM:607143
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Morm Syndrome
Micropenis, Aggressive behavior, Hyperactivity ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Nephrolithiasis, Aggressive b... OMIM:619827
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Landau-Kleffner Syndrome
Depression, Memory impairment, Short attention span, Emotional lability, Aggressive behavior, Att... ORPHA:98818
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Gand Syndrome
Inappropriate laughter, Long toe, Hyperactivity, Long fingers, Tics OMIM:615074
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic p... OMIM:616300
Lennox-Gastaut Syndrome
Aggressive behavior, Hyperactivity, Mental deterioration, Irritability ORPHA:2382
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ... ORPHA:166016
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Metaphyseal dysplasia, Abn... ORPHA:239
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hallux valgus, Motor stereotypy, Hyperactivity OMIM:615541
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention deficit hyperactivity di... OMIM:620141
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Sandal gap, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Hi... ORPHA:228402
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Abn... ORPHA:2634
Chromosome Xq13 Duplication Syndrome
Clinodactyly of the 5th finger, Emotional lability, Aggressive behavior, Attention deficit hypera... OMIM:301069
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Glandular hypospadias, Cardiomegaly, Talipes equinovarus, Short femur OMIM:620306
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Horseshoe kidney, Fibular aplasia,... ORPHA:3320
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Depression, Short attention span, Aggressive behavior, Attention de... OMIM:620242
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Short toe, Type E brachydactyly, Stereotypical hand wringing, Skin-picki... OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Horizontal... OMIM:263520
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of the toes, Cone-shap... ORPHA:397973
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Horizontal ribs, Fibular hypoplasia, Short ribs,... OMIM:617925
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Brachydactyly, Short metatarsal, Hyperactivity, Advanced ossification of c... OMIM:614613
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Heparan sulfate excretion in urine, Splenomegaly, Cardiomeg... OMIM:252920
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Purple urine, Confusion, I... ORPHA:100924
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Mental deterioration, Preaxial polydactyly, Pes cavus, Low frustration ... ORPHA:163681
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the l... ORPHA:3035
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... OMIM:600002
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp... OMIM:258315
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Ra... OMIM:307800
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Fibrochondrogenesis 1
Thin ribs, Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Posterior rib cuppin... OMIM:228520
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, 2-3 toe syndactyly, Aggressive behavior, Hyperactivity, Motor stereotypy ORPHA:391307
Tibial Hemimelia
Absent tibia OMIM:275220
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Fibular hypoplasia, Ulnar deviated club hands, Co... OMIM:164900
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Urinary bladder sphincter dysfunction, Disinhibition, Aggressive behavior, ... ORPHA:43
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder, Pes planus, Hy... OMIM:617600
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Occipital Horn Syndrome
Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi... ORPHA:198
Seckel Syndrome 1
Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Cone-shaped epiphyses of the phalange... OMIM:210600
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tib... ORPHA:958
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Kyphomelic Dysplasia
Radial bowing, Flared metaphysis, Micromelia, Dumbbell-shaped humerus, Femoral bowing, Undulate r... OMIM:211350
Insulin-Like Growth Factor I Deficiency
Clinodactyly of the 5th finger, Micrognathia, Short attention span, Hyperactivity OMIM:608747
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Abnormality of the ureter, R... OMIM:200980
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvi... OMIM:208500
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,... OMIM:164745
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Polyuria, Hyperactivity, Self-biting, Renal potassium ... OMIM:618314
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome... OMIM:274000
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Progressive languag... OMIM:610042
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Femoral bowing, Micrognathia, Tibial bowing, ... ORPHA:140
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti... ORPHA:2879
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... OMIM:600383
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Hydrolethalus Syndrome 1
Upper limb undergrowth, Preaxial hand polydactyly, Micrognathia, Hydronephrosis, Talipes equinova... OMIM:236680
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Preaxial foot polydactyly, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Kinsship Syndrome
Mesomelia, Renal hypoplasia, Cervical ribs, Horseshoe kidney, Bruxism, Micrognathia, Polydactyly,... OMIM:619297
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Talipes calcaneovalgus, Short attention span, Emotional lability, Hyperacti... OMIM:610217
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Hypospadias, Broad distal phalanx of finger, Broad thumb, Broad hallux, ... ORPHA:353281
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior, Nephrolithiasis OMIM:219090
Craniorachischisis
Bifid sternum, Sirenomelia ORPHA:63260
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Reduced renal corticomedullary differentiation, Hyperactivity OMIM:620047
Cranioectodermal Dysplasia 1
Chronic kidney disease, Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radi... OMIM:218330
Ulbright-Hodes Syndrome
Thin ribs, Abnormal penis morphology, Renal hypoplasia, Abnormal forearm bone morphology, Fibular... ORPHA:3404
Charge Syndrome
Renal hypoplasia, Bifid femur, Short thumb, Abnormal rib morphology, Horseshoe kidney, Micrognath... OMIM:214800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad thumb, Micrognathia, Emotional lability, Social and occupational deterioration, Patellar di... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad thumb, Micrognathia, Emotional lability, Social and occupational deterioration, Patellar di... ORPHA:353277
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Broad ribs, Fibular aplasia, Micrognathia, Fibular hypoplasia, Arac... OMIM:300373
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Coffin-Lowry Syndrome
Bifid sternum, Tapered finger, Pes planus, Drumstick terminal phalanges, Narrow iliac wing, Short... OMIM:303600

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 Arih1

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 Arih1.

No publications found that use IMPC mice or data for Arih1.

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
Arih1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Arih1em1(IMPC)Tcp Exon Deletion Mice
Arih1tm119275(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arih1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter