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Gene: Rbm45 MGI:2387367

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Gene Summary

Name:
RNA binding motif protein 45
Synonyms:
Drb1,  Drbp1,  G430095G15Rik

Order Alleles

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
increased total body fat amount Rbm45em1(IMPC)J HET Early adult 1.50×10-08
polydactyly Rbm45em1(IMPC)J HOM E18.5 0.00
decreased lean body mass Rbm45em1(IMPC)J HET Early adult 8.78×10-07
abnormal facial morphology Rbm45em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Rbm45em1(IMPC)J HOM E18.5 0.00
abnormal head shape Rbm45em1(IMPC)J HOM E18.5 0.00
abnormal body wall morphology Rbm45em1(IMPC)J HOM E18.5 0.00
abnormal tail morphology Rbm45em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Rbm45em1(IMPC)J HOM   Early adult 0.00
hemorrhage Rbm45em1(IMPC)J HOM E18.5 0.00
edema Rbm45em1(IMPC)J HOM E18.5 0.00
decreased bone mineral density Rbm45em1(IMPC)J HET Early adult 5.18×10-05
anophthalmia Rbm45em1(IMPC)J HOM E18.5 0.00

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Gross Morphology Embryo E18.5

Images

7 Images

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Electroretinography 3

Fundus file

9 Images

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Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

4 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Rbm45 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 Rbm45 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia With Limb Anomalies
Frontal bossing, Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capit... OMIM:206920
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... OMIM:613885
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Carpenter Syndrome
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... ORPHA:65759
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia ORPHA:294975
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Trisomy 13
Anophthalmia, Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Abnorm... ORPHA:3378
Trisomy 1Q
Omphalocele, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalm... ORPHA:261344
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion ORPHA:35099
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Orbital encephalocele, Congenital hip dislocation OMIM:164180
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Al-Gazali-Bakalinova Syndrome
Frontal bossing, Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Lymphedema, Flattened epi... OMIM:607131
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia, Brachycephaly ORPHA:66625
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Hydrolethalus
Anophthalmia, Polyhydramnios, Micromelia, Postaxial hand polydactyly, Anencephaly, Microphthalmia ORPHA:2189
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Oligohydramnios OMIM:615397
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation ... ORPHA:1101
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... OMIM:614416
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Clinodactyly, Brachycephaly, Cone-shaped epiphyses of the p... OMIM:602849
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... ORPHA:139471
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Flat acetab... OMIM:617102
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... OMIM:123150
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Inguinal... OMIM:600325
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... OMIM:603194
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Hiatus herni... ORPHA:2538
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly, Short p... ORPHA:3210
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Bradycardia ORPHA:2898
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Arachnodactyly, Postaxial polydactyly, Tapered finger, Brachycephaly, Genu valgu... OMIM:619721
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger OMIM:618725
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Abnormally large globe, Posterior plagiocephaly, Rhizomelic arm shortening, Abnor... ORPHA:96190
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Silver-Russell Syndrome Due To A Point Mutation
Frontal bossing, Syndactyly, Inguinal hernia, Short 5th finger, Polydactyly, Ectrodactyly, Small ... ORPHA:397590
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Oligohy... ORPHA:2145
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis... OMIM:605627
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r... OMIM:617895
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Bardet-Biedl Syndrome 8
Brachycephaly, Postaxial polydactyly OMIM:615985
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Brachycephaly, Short foot, ... ORPHA:264200
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Dolichocep... OMIM:614091
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
Joubert Syndrome 10
Frontal bossing, Postaxial polydactyly OMIM:300804
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... ORPHA:93258
Achondrogenesis, Type Ii
Frontal bossing, Broad long bones, Edema, Short tubular bones of the hand, Abnormally large globe... OMIM:200610
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Overlapping toe, Postaxial polydactyly, Tapered finger, Brachycephaly, Macular hypo... OMIM:613792
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Brachycephaly, Bilateral talipes eq... OMIM:618142
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Polyhydramnios, Spina bifida, Hypoplasia of the radius, Hip disloc... ORPHA:3412
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,... OMIM:201000
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Septooptic Dysplasia
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly OMIM:615633
Ivic Syndrome
Hypoplasia of the ulna, Frontal bossing, Short femur, Limited interphalangeal movement, Limited e... OMIM:147750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Syndactyly, Polydactyly OMIM:602501
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... OMIM:619879
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Meckel Syndrome, Type 10
Frontal bossing, Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Pos... OMIM:614175
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Slender long bone, Decreased calvaria... OMIM:618265
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia OMIM:616910
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Brachycephaly, Postaxial polydactyly OMIM:615761
Atelosteogenesis Type Ii
Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... ORPHA:56304
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... OMIM:305600
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes... OMIM:614815
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Joubert Syndrome 27
Frontal bossing, Polydactyly OMIM:617120
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Plagiocephal... OMIM:605282
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals OMIM:615996
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Craniosynostosis 2
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Triphalang... OMIM:604757
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Pelger-Huet Anomaly
Frontal bossing, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Sho... OMIM:169400
Holoprosencephaly
Omphalocele, Frontal bossing, Encephalocele, Anophthalmia, Flat occiput, Spinal dysraphism, Branc... ORPHA:2162
Nephronophthisis 15
Polydactyly OMIM:614845
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl... OMIM:609128
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Walker-Warburg Syndrome
Metatarsus valgus, Microphthalmia, Anophthalmia ORPHA:899
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Edema, Telangiectasia, Polydactyly, Umbil... ORPHA:93400
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ... ORPHA:564
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... OMIM:607932
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Manitoba Oculotrichoanal Syndrome
Omphalocele, Microphthalmia, Anophthalmia OMIM:248450
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... OMIM:258860
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, ... OMIM:302960
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Plagiocephaly, Hip dysplasia, Deviation of the 5th finger OMIM:616362
Microphthalmia, Syndromic 9
Inguinal hernia, Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis, Intrauterine growth r... OMIM:601186
Contractural Arachnodactyly, Congenital
Frontal bossing, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, ... OMIM:121050
Muenke Syndrome
Tarsal synostosis, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Short foot, Short palm, C... ORPHA:53271
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Cardioacrofacial Dysplasia 1
Limb undergrowth, Midface retrusion, Postaxial polydactyly, Genu valgum OMIM:619142
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Postaxial hand polydactyly, Polydactyly OMIM:607361
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d... OMIM:180750
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Mitral regurgitation, Postaxial polydactyly, Abnormally large globe OMIM:603387
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Brachycephaly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dista... ORPHA:404440
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Brachycephaly, Clin... ORPHA:3103
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial poly... OMIM:616300
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... OMIM:615503
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... OMIM:607323
Suleiman-El-Hattab Syndrome
Inguinal hernia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly OMIM:618950
Joubert Syndrome 37
Microphthalmia, Frontal bossing, Postaxial polydactyly OMIM:619185
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia, Pulmonic stenosis ORPHA:137634
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Optic nerve hypoplasia, Parietal foramina, Preaxial polydactyly, Brach... OMIM:603671
Joubert Syndrome 23
Polydactyly OMIM:616490
Microphthalmia, Syndromic 2
Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, 2-3 toe syndactyly, Hammert... OMIM:300166
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Midface retrusion OMIM:610829
Cockayne Syndrome Type 1
Hypertension, Anophthalmia ORPHA:90321
Achard Syndrome
Broad skull, Arachnodactyly, Brachycephaly OMIM:100700
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Cranioectodermal Dysplasia 3
Frontal bossing, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 to... OMIM:614099
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Otopalatodigital Syndrome Type 2
Omphalocele, Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodact... ORPHA:90652
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Frontal bossing, Inguinal hernia, Single transverse palmar crease, Polyhydramnios, D... OMIM:247200
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc... OMIM:277170
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Brach... OMIM:207410
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Cranioectodermal Dysplasia 2
Frontal bossing, Syndactyly, Cloverleaf skull, Rhizomelia, Inguinal hernia, Craniosynostosis, Pol... OMIM:613610
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasi... OMIM:219000
Orofaciodigital Syndrome Type 6
Frontal bossing, Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydac... ORPHA:2754
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Brachycephaly, Femoral bowing, Abnorma... OMIM:274000
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Inguinal hernia, Anophthalmia ORPHA:2250
Adnp Syndrome
Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpholo... ORPHA:404448
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Meningocele, Intracranial hemorrhage, Hypertension, Microph... OMIM:614424
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios OMIM:615824
Fraser Syndrome
Omphalocele, Finger syndactyly, Encephalocele, Anophthalmia, Toe syndactyly, Myelomeningocele, Um... ORPHA:2052
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Anophthalmia, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, ... ORPHA:2556
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Plagiocephaly, Delayed ossifi... OMIM:620099
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Basal Cell Nevus Syndrome 1
Frontal bossing, Down-sloping shoulders, Spina bifida, Palmar pits, Irregular ossification of han... OMIM:109400
Charge Syndrome
Omphalocele, Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping ... OMIM:214800
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly, Craniosynostosis ORPHA:531151
Charge Syndrome
Anophthalmia, Polyhydramnios, Abnormal tibia morphology, Bifid femur, Clinodactyly of the 5th fin... ORPHA:138
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Polydactyly, Complete duplication of thumb phalanx, Sho... ORPHA:59315
Pseudoaminopterin Syndrome
Frontal bossing, Brachydactyly, Inguinal hernia, Overlapping toe, Single transverse palmar crease... ORPHA:221120
Mend Syndrome
Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Polydactyly, Macular hypoplasia,... OMIM:300960
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Intrauterine growth retardation, Hip dysplasia, Postaxial polydactyly OMIM:614576
Carpenter Syndrome 2
Single transverse palmar crease, Preaxial polydactyly, Brachycephaly, Coxa vara, Cutaneous finger... OMIM:614976
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Frontal bossing, Postaxial polydactyly, Preaxial polydactyly, Brachycephaly, Fibular hypoplasia, ... OMIM:617925
Hunter-Macdonald Syndrome
Aortic regurgitation, Epiphyseal dysplasia, Inguinal hernia, Metatarsus adductus, Brachycephaly, ... OMIM:611962
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial... OMIM:113620
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Frontal bossing, Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, ... ORPHA:397715
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia OMIM:615636
Au-Kline Syndrome
Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial polydactyly, Coxa valga, ... OMIM:616580
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Helsmoortel-Van Der Aa Syndrome
Sandal gap, Broad hallux, Tapered finger, Small hand, Heart murmur, Genu valgum, Posterior plagio... OMIM:615873
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Plagiocephaly, Hip ... ORPHA:457284
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Proboscis ORPHA:141099
Orofaciodigital Syndrome I
Frontal bossing, Syndactyly, Myelomeningocele, Short 2nd toe, Hypertension, Polydactyly, Radial d... OMIM:311200
Craniosynostosis And Dental Anomalies
Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Sagittal craniosynostos... OMIM:614188
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Polyhydramnios, Aplastic clavicle, Micromelia, Preaxial polydactyly, Hydro... OMIM:616546
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Hip dislocation, Small hand, Brachycephaly, Short foot, Hi... OMIM:300968
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Choanal Atresia
Polydactyly, Craniosynostosis ORPHA:137914
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Meckel Syndrome, Type 1
Omphalocele, Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of fing... OMIM:249000
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Polydactyly, Acromesomelia, ... ORPHA:464306
Orofaciodigital Syndrome V
Frontal bossing, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po... OMIM:174300
Monosomy 9Q22.3
Palmar pits, Umbilical hernia, Polydactyly, Trigonocephaly, Microphthalmia ORPHA:77301
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... OMIM:617527
Pallister-Hall Syndrome
Mesoaxial polydactyly, Radial bowing, Trigonocephaly, Umbilical hernia, Polydactyly affecting the... ORPHA:672
Culler-Jones Syndrome
Midface retrusion, Postaxial polydactyly OMIM:615849
Degcags Syndrome
Syndactyly, Tachycardia, Toe syndactyly, Craniosynostosis, Hiatus hernia, Polyhydramnios, Short t... OMIM:619488
Khan-Khan-Katsanis Syndrome
Frontal bossing, Tricuspid regurgitation, Postaxial polydactyly, Buphthalmos, Intrauterine growth... OMIM:618460
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Polyhydramnios, Hypoplastic iliac wing, Prominent fingertip pads... OMIM:180849
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... ORPHA:2886
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly OMIM:219730
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Aortic regurgitation, Inguinal hernia, Tapered finger, Abnormal toe morphology, Po... ORPHA:268261
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal toe morphology, Abnormal finger morphology, Cranial asymmetry OMIM:163200
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicle... OMIM:309800
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Okamoto Syndrome
Omphalocele, Abnormally large globe, Hip dysplasia, Polydactyly, Aortic valve stenosis, Midface r... ORPHA:2729
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me... OMIM:619297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Incre... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Incre... ORPHA:352665
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Narrow greater sciatic notch, Short palm, Short greater sciatic notch, Cardiomyop... OMIM:312870
Holoprosencephaly 7
Omphalocele, Frontal bossing, Flat occiput, Occipital meningocele, Bilateral microphthalmos, Cran... OMIM:610828
Joubert Syndrome 39
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Frontal bossing, Syndactyly, Inguinal hernia, Tricuspid regurgitation, Card... OMIM:619534
Stromme Syndrome
Microphthalmia, Preaxial polydactyly, Optic nerve hypoplasia OMIM:243605
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Cranial asymmetry OMIM:614886
Rabson-Mendenhall Syndrome
Cardiomyopathy, Polydactyly, Intrauterine growth retardation ORPHA:769
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Polyhydramnios... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Polyhydramnios... ORPHA:353277
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Hypertrophic cardiomyopathy, Short femur, Polydactyly ORPHA:17
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Cone-shaped epiphysis, Short l... OMIM:617088
Loeys-Dietz Syndrome 2
Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial pol... OMIM:610168
Legius Syndrome
Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly... ORPHA:137605
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Branchi... OMIM:164210
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... ORPHA:480880
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... OMIM:192350
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Frontal bossing, Polydactyly OMIM:301022
Faciocardiomelic Syndrome
Slender long bone, Polydactyly, Hypoplastic pelvis OMIM:612731
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Hypotension, Abnormal digit morphology ORPHA:95494
Wiedemann-Rautenstrauch Syndrome
Long toe, Frontal bossing, Short humerus, Short femur, Optic disc hypoplasia, Camptodactyly of fi... ORPHA:3455
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Postaxial hand polydactyly, Preaxial polydactyly, Trigonoc... OMIM:615948
Neurocardiofaciodigital Syndrome
Syndactyly, Polydactyly OMIM:619869

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 Rbm45

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 Rbm45.

No publications found that use IMPC mice or data for Rbm45.

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
Rbm45tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rbm45tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rbm45tm39338(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rbm45em1(IMPC)J Exon Deletion Mice

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