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Gene: Golph3 MGI:1913879

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Gene Summary

Name:
golgi phosphoprotein 3
Synonyms:
4733401N08Rik,  5730410D03Rik

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
enlarged lymph nodes Golph3em1(IMPC)Tcp HET Early adult 0.00
increased circulating alkaline phosphatase level Golph3em1(IMPC)Tcp HOM Early adult 0.00
short tibia Golph3em1(IMPC)Tcp HOM Early adult 0.00
increased grip strength Golph3em1(IMPC)Tcp HOM Early adult 2.37×10-08
abnormal cranium morphology Golph3em1(IMPC)Tcp HOM Early adult 6.15×10-05
small seminal vesicle Golph3em1(IMPC)Tcp HOM Early adult 0.00
abnormal auditory brainstem response Golph3em1(IMPC)Tcp HOM   Early adult 0.0766
abnormal bone structure Golph3em1(IMPC)Tcp HOM Early adult 2.13×10-09
preweaning lethality, incomplete penetrance Golph3em1(IMPC)Tcp HOM Early adult 0.00
abnormal forelimb morphology Golph3em1(IMPC)Tcp HOM Early adult 9.46×10-06
abnormal skin morphology Golph3em1(IMPC)Tcp HOM Early adult 0.00
enlarged thymus Golph3em1(IMPC)Tcp HOM Early adult 0.00
abnormal spleen morphology Golph3em1(IMPC)Tcp HOM Early adult 0.00
increased mean platelet volume Golph3em1(IMPC)Tcp HOM Early adult 9.90×10-05
decreased bone mineral content Golph3em1(IMPC)Tcp HOM Early adult 6.07×10-08

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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

18 Images

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Eye Morphology

Images Ophthalmoscopy

94 Images

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X-ray

XRay Images Skull Lateral Orientation

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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Gross Pathology and Tissue Collection

Images

16 Images

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Eye Morphology

Images Slit Lamp

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

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Histopathology

Images

7 Images

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Human diseases caused by Golph3 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 Golph3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Progressive sensorineur... ORPHA:494444
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Pes cavus, Recurrent otitis media, Giant platelets, Upper limb... OMIM:169400
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Congenital Disorder Of Glycosylation, Type Iig
Microtia, Short long bone, Broad femoral neck, Rhizomelia, Hypospadias, Camptodactyly, Posteriorl... OMIM:611209
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Anemia, Ab... ORPHA:1802
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... OMIM:612447
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Sensorineural hearing impairment, Increased mean pl... ORPHA:182050
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Tal... OMIM:601382
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Aplasia/hypoplas... ORPHA:356961
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Microtia, Hearing impairment, Increased mean platelet volume, Thrombocytop... OMIM:620475
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Eiken Syndrome
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Takenouchi-Kosaki Syndrome
Optic atrophy, Proximal placement of thumb, Hypospadias, Sensorineural hearing impairment, Tapere... OMIM:616737
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Increased mean platelet volume, Thrombocytopenia OMIM:300048
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Abnormality of iron homeostasis, Microtia, Hyperm... OMIM:222470
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Hypocalcemia, Sensorineural hearin... OMIM:607143
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Low-set ears, Micrognath... OMIM:201170
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetab... OMIM:620076
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Microcephaly-Micromelia Syndrome
Oligodactyly, Low-set ears, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosi... OMIM:251230
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Abnormal au... OMIM:601559
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Optic atrophy, Fibular ... ORPHA:1106
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U... OMIM:616300
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Orofaciodigital Syndrome Iv
Short finger, Low-set ears, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognath... OMIM:258860
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Autosomal Recessive Spastic Paraplegia Type 44
Pes cavus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of ... ORPHA:320401
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Sensorineural hearing impairment, Impaired platelet aggregation, Thrombocy... OMIM:124900
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Proximal placement of thumb, Hypospadias, Low-set, posteriorly rotated ears, Abnor... ORPHA:487796
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, A... OMIM:617925
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hypoplasia of the thymus, Increased mea... ORPHA:84064
Femoral-Facial Syndrome
Abnormal fibula morphology, Long penis, Microtia, Low-set ears, Abnormal pelvic girdle bone morph... ORPHA:1988
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
Charcot-Marie-Tooth Disease, Type 4D
Pes cavus, Decreased nerve conduction velocity, Hammertoe, Sensorineural hearing impairment, Abno... OMIM:601455
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... OMIM:307800
Charcot-Marie-Tooth Disease, Type 4C
Pes cavus, Delayed brainstem auditory evoked response conduction time, Hammertoe, Abnormal crania... OMIM:601596
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Aplasia/Hypop... ORPHA:3320
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Microtia... ORPHA:96334
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Acromesomelic Dysplasia 3
Radial deviation of finger, Aplasia of the proximal phalanx of the 2nd finger, Elevated circulati... OMIM:609441
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Stillbirth, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talipes equinovarus, Mirro... OMIM:119800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Orofaciodigital Syndrome Type 2
Protruding ear, Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger s... ORPHA:2751
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Shoulder flexion contracture, Ulnar deviation of ... OMIM:193700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Abnormally ossified ver... ORPHA:3035
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ribs, Short lon... OMIM:263520
Omodysplasia 2
Fibular hypoplasia, Recurrent otitis media, Clinodactyly of the 5th finger, Hypospadias, Dislocat... OMIM:164745
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Broad finger, Abnormal auditory evoked potentials, Optic... OMIM:617523
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged neonatal jaundic... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged neonatal jaundic... ORPHA:529799
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... ORPHA:3240
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Pes cavus, Temporal optic disc pallor, Sensorineural hearing impairment, Absent br... ORPHA:1215
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ... OMIM:617718
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Caffey Disease
Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio... OMIM:114000
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Cryptorchidism OMIM:218550
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Coxa valga, Hip dislocation OMIM:109120
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Clinodactyly, Neutro... OMIM:603585
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Absence of alpha granules, Impa... OMIM:187900
Proteus-Like Syndrome
Genu recurvatum, Hyperostosis, Lower limb asymmetry, Splenomegaly, Thymus hyperplasia, Polycystic... ORPHA:2969
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hepatomegaly, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Enla... ORPHA:289157
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatomegaly, Sensorineural hearing impairment, Absen... ORPHA:79330
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Occipital Horn Syndrome
Cholestasis, Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Aplastic clavicle... ORPHA:198
Hydrolethalus Syndrome 1
Stillbirth, Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Upper limb undergrowth, Abno... OMIM:236680
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Low-set ears, Cryptorchidism, Mesomelic leg shorteni... OMIM:603671
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Cerebrotendinous Xanthomatosis
Osteopenia, Pes cavus, Optic atrophy, Abnormal femur morphology, Abnormal tibia morphology, Decre... ORPHA:909
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Irregular epiphyses, Optic disc pallor, Abnormal auditory evoke... OMIM:619260
Seckel Syndrome 1
Clitoral hypertrophy, Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalang... OMIM:210600
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Hypsarrhythmia, Arachnodactyly, Micrognathia, Thymus hyperplasia, EEG with burst suppression, Tal... OMIM:619036
Cockayne Syndrome Type 1
Optic atrophy, Hepatomegaly, Anemia, Male hypogonadism, Foot joint contracture, Absent brainstem ... ORPHA:90321
Trisomy 10P
Abnormal foot morphology, Ulnar deviated club hands, Rectovaginal fistula, EEG with burst suppres... ORPHA:171929
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Microtia, Abnormal pelvic girdle bone morphology, Finger a... ORPHA:1788
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Cockayne Syndrome A
Optic atrophy, Square pelvis bone, Hepatomegaly, Decreased nerve conduction velocity, Hypoplastic... OMIM:216400
Late-Infantile/Juvenile Krabbe Disease
Pes cavus, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction... ORPHA:206443
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tibial bowing, Femoral ... ORPHA:140
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... OMIM:274000
Cockayne Syndrome B
Optic atrophy, Square pelvis bone, Hepatomegaly, Decreased nerve conduction velocity, Hypoplastic... OMIM:133540
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda... ORPHA:958
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Jaundice, Irregular epiphyses, Early ossification of ... OMIM:208500
Mend Syndrome
2-3 toe syndactyly, Abnormal auditory evoked potentials, Low-set ears, Hand polydactyly, Long fin... ORPHA:401973
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Pes cavus, Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic ... OMIM:609136
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Hypopituitar... ORPHA:1827
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Low-set ears, Split hand, Rudimentary to absent... OMIM:200980
Fibrochondrogenesis 1
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th... OMIM:228520
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Impaired lymphocyte transformation with phyt... OMIM:301000
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Charcot-Marie-Tooth Disease Type 1F
Pes cavus, Distal lower limb muscle weakness, Decreased nerve conduction velocity, Sensorineural ... ORPHA:101085
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Adult Krabbe Disease
Pes cavus, EEG abnormality, Delayed brainstem auditory evoked response conduction time ORPHA:206448
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Absent tibia, Lymphopenia, ... OMIM:214800
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Tibial Hemimelia
Absent tibia OMIM:275220
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Hyp... OMIM:304120
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Orofaciodigital Syndrome Type 4
Absent crus of helix, Rectovaginal fistula, Finger syndactyly, Monorchism, Perineal fistula, Post... ORPHA:2753
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Short humerus, Short distal phalanx of finger, Clinodacty... OMIM:218330
Proteus Syndrome
Macrodactyly, Abnormal finger morphology, Calvarial hyperostosis, Lymphangioma, Splenomegaly, Thy... ORPHA:744
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Kinsship Syndrome
Osteopenia, Polydactyly, Fibular hypoplasia, Dislocated radial head, Low-set ears, Micrognathia, ... OMIM:619297
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Clitoral hypertrophy, Enlarged labia minora, Abnormal ... ORPHA:3404
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Decreased response to growth hormone stimulation test, Hypos... 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 Golph3

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 Golph3.

No publications found that use IMPC mice or data for Golph3.

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
Golph3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Golph3em1(IMPC)Tcp Exon Deletion Mice
Golph3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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