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Gene: Itm2c MGI:1927594

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Gene Summary

Name:
integral membrane protein 2C
Synonyms:
3110038L02Rik,  Bricd2c,  BRI3,  ITM3

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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
short tibia Itm2cem2(IMPC)Tcp HOM Early adult 6.78×10-05
abnormal cholesterol homeostasis Itm2cem2(IMPC)Tcp HOM Early adult 2.36×10-06
preweaning lethality, incomplete penetrance Itm2ctm1b(EUCOMM)Wtsi HOM   Early adult 0.00328

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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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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X-ray

XRay Images Skull Lateral Orientation

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Electrocardiogram (ECG)

Waveform Image

34 Images

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Gross Pathology and Tissue Collection

Images

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Immunophenotyping

Panel A FCS file(s)

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Immunophenotyping

Panel B FCS file(s)

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Itm2c 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 Itm2c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Blount Disease
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... ORPHA:2768
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Tibial Hemimelia
Absent tibia OMIM:275220
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... OMIM:201170
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum... OMIM:607143
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab... ORPHA:1505
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... OMIM:268305
Osteosclerosis With Ichthyosis And Fractures
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing OMIM:166740
Atelosteogenesis Type Iii
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... ORPHA:56305
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... ORPHA:1106
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... OMIM:227270
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... OMIM:601559
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Orofaciodigital Syndrome Ix
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly OMIM:258865
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Genu valgum, Metaphyseal irregularity, Bulging epiphyses, Rickets of the lower limbs,... OMIM:600785
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Slc35A2-Cdg
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... OMIM:119800
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Shox-Related Short Stature
Genu valgum, Micrognathia, Lower limb undergrowth, Ulnar radial head dislocation, Forearm undergr... ORPHA:314795
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... OMIM:613091
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... OMIM:609945
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short metacarpal, Hypoplast... OMIM:608940
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... ORPHA:1988
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy... OMIM:616300
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... OMIM:171480
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia OMIM:164900
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... ORPHA:3320
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... OMIM:258315
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... OMIM:206920
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P... ORPHA:2751
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Syndactyly, Preaxial po... OMIM:603671
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... OMIM:617925
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... OMIM:263520
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... ORPHA:96334
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... ORPHA:1788
Caffey Disease
Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing OMIM:114000
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... OMIM:600002
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the mandible, Femoral bowing, Metaphyseal chondrodysplasia, Fibular bowing,... ORPHA:85165
Kyphomelic Dysplasia
Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, F... OMIM:211350
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... ORPHA:958
Saul-Wilson Syndrome
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... OMIM:618150
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Small hand, Narro... OMIM:228520
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... OMIM:164745
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... ORPHA:2879
Occipital Horn Syndrome
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... ORPHA:198
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... ORPHA:3144
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d... OMIM:200980
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo... ORPHA:140
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus ORPHA:1827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... OMIM:208500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... OMIM:236680
Campomelic Dysplasia
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... OMIM:114290
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... OMIM:304120
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... ORPHA:2753
Cranioectodermal Dysplasia 1
Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Radial deviation of finger, Flatt... OMIM:218330
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Flexion contracture of toe, Micrognathia, Camptodactyly, Clinodactyly... OMIM:300373
Charge Syndrome
Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sloping shoulde... OMIM:214800

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 Itm2c

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 Itm2c.

No publications found that use IMPC mice or data for Itm2c.

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MGI Allele Allele Type Produced
Itm2ctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Itm2cem2(IMPC)Tcp Indel Mice, Tissue
Itm2ctm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Itm2ctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Itm2ctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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