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Gene: Sh3pxd2a MGI:1298393

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Gene Summary

Name:
SH3 and PX domains 2A
Synonyms:
Sh3md1,  2310014D11Rik,  Fish,  Tks5

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
preweaning lethality, complete penetrance Sh3pxd2atm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Sh3pxd2atm1b(EUCOMM)Wtsi HET Early adult 5.54×10-08

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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.

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Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HET, Female, WTSI

View all 85 images

Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal snout morphology, upturned snout, head, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, head, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, head, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
head, abnormal snout morphology, asymmetric snout, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal snout morphology, head, upturned snout, HET, Female, WTSI

View all 6 images

Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
HOM, Female, WTSI

View all 6 images

Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal pupil morphology, HET, Male, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Female, WTSI
Sh3pxd2atm1b(EUCOMM)Wtsi
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Sh3pxd2a 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 Sh3pxd2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Syngnathia
Cleft palate OMIM:119550
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Uvula, Bifid
Bifid uvula OMIM:192100
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Cleft Soft Palate
Cleft soft palate OMIM:119570
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula, Death in infancy OMIM:258320
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Dysphagia OMIM:617732
Multiple Epiphyseal Dysplasia, Lowry Type
Abnormal sternum morphology, Genu valgum, Fragmented epiphyses, Epiphyseal dysplasia, Dislocated ... ORPHA:166016
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap OMIM:216300
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, Dysphagia, Cleft palate, High, narrow palate OMIM:201550
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia ORPHA:99772
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip ORPHA:2736
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2521
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Small hand, Esophageal atresia, Wide mouth, Bifid uvula, Downturn... OMIM:618779
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Short toe, Tapered finger, Short 4th metacarpal, Hypodontia, Submucous c... ORPHA:3201
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Acropectorovertebral Dysplasia
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Pect... ORPHA:957
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Genu valgum, Coxa vara, Short femoral neck, Abnormality of the epiphysis o... ORPHA:93316
Orofaciodigital Syndrome Xix
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Toe syndactyly, ... OMIM:620107
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Birk-Barel Syndrome
High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Dysphagia, Tented upper li... OMIM:612292
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Aplasia/Hypoplasia... OMIM:192445
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Cleft soft palate, Long philtrum, Partial duplication of the phalanx of hand... OMIM:616331
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Cleft soft palate, Long philtrum, Metatarsal synostosis, Oligodactyly, Pr... ORPHA:2756
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Long philtrum, Gingival overgrowth, Clinodactyly, Camptodactyly, Broad hallux,... OMIM:618529
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Bifid uvula, Submucous cleft hard palate, Hyperactivity OMIM:619239
Orofaciodigital Syndrome Iii
Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Posta... OMIM:258850
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Genu valgum, Tooth malposition, Long philtrum, Delayed eruption of teeth, Oli... ORPHA:2712
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, Cleft soft palate, Posterior rib gap, Cleft palate, Glossoptosis, Rib gap, A... OMIM:117650
Arthrogryposis, Distal, Type 3
Short phalanx of finger, Camptodactyly of finger, High palate, Cutaneous finger syndactyly, Campt... OMIM:114300
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Schilbach-Rott Syndrome
Bifid uvula, 3-4 finger cutaneous syndactyly, Clinodactyly, Submucous cleft hard palate, 2-3 toe ... OMIM:164220
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Mucopolysaccharidosis, Type Ix
Bifid uvula, Acetabular erosions, Submucous cleft hard palate, Finger joint hypermobility OMIM:601492
Cree Mental Retardation Syndrome
Cleft soft palate, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs, Pectus excavatum,... OMIM:606851
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Short femoral neck, Coxa vara, Long philtrum, Velopharyngeal insufficiency, R... OMIM:614701
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Submucous cleft hard palate, Pectus excavatum, Scapular winging, Unilateral c... OMIM:619122
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... OMIM:617412
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Loeys-Dietz Syndrome 5
Congenital finger flexion contractures, High palate, Cleft soft palate, Eosinophilic infiltration... OMIM:615582
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Bifid tongue, Taurodontia, Abnormal oral frenulum morphology... ORPHA:2751
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... ORPHA:2804
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Thin upper lip vermilion, Clinodactyly of the 5th finger, Cleft soft palate OMIM:620183
Multiple Synostoses Syndrome 1
Thick upper lip vermilion, 2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short ha... OMIM:186500
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Clinodactyly of the 5th finger, Submucous... OMIM:619314
Craniosynostosis 2
Triphalangeal thumb, Supernumerary tooth, Cleft soft palate, Brachydactyly OMIM:604757
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate ORPHA:209908
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Delayed eruption of teeth, Coarse metaphyseal trabecularization, Bifid uvula, S... ORPHA:2780
Orofaciodigital Syndrome Type 3
Short sternum, Irregular dentition, Lobulated tongue, Thoracic kyphosis, Bifid uvula, Postaxial f... ORPHA:2752
Hydrolethalus
Gingival cleft, Bifid uvula, Submucous cleft hard palate, Postaxial hand polydactyly, Cleft palat... ORPHA:2189
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Submucous cleft hard palate, Pectus excavatum, Arachnodactyly... OMIM:108300
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Myhre Syndrome
Large iliac wing, Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard pala... ORPHA:2588
Dysosteosclerosis
Short diaphyses, Short sternum, Broad femoral neck, Broad ribs, High palate, Natal tooth, Short r... OMIM:224300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Hi... OMIM:608670
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Non-midline cleft lip, Finger syndactyly, Delayed eruption of teeth, Widely spaced... ORPHA:1071
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Pectus excavatum, Tracheoesophageal fistula, Att... OMIM:619227
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Small hand, Long philtrum, High, narrow palate, Submucous cleft hard palate, Thin up... OMIM:612863
Limb-Mammary Syndrome
Toe syndactyly, Hypodontia, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Bifi... ORPHA:69085
Marbach-Schaaf Neurodevelopmental Syndrome
Tapered finger, Submucous cleft hard palate, Thin upper lip vermilion, Downturned corners of mout... OMIM:619680
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Submucous cleft hard palate, Protruding tongue, Dental crowding, Thick v... OMIM:618106
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Attention deficit hyperactivi... OMIM:619103
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Tapered finger, Cleft soft palate, Microdontia, Smooth philtrum, Cleft palate, Eclabion, Agitatio... OMIM:619950
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Epiphyseal stippling, Submucous cleft hard palate, Abnormal pelvic girdle bone morph... OMIM:222765
Campomelic Dysplasia
Short phalanx of finger, Irregular dentition, Thoracic hypoplasia, Hallux valgus, Hip dislocation... OMIM:114290
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Finger syndactyly, Long philtrum, Submucous cleft hard palate, Sandal ga... ORPHA:178303
Meier-Gorlin Syndrome 5
Patellar aplasia, Long philtrum, Slender long bone, Clinodactyly, Submucous cleft hard palate, Hy... OMIM:613805
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Adducted thumb, Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Bifid uvula, Clinodactyly of the 5th finger, Submucous cleft hard pala... OMIM:300990
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, High palate, Small hand, Wide mouth, Delayed eruption of teeth, ... ORPHA:235
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Postax... ORPHA:2753
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Submucous cleft hard palate OMIM:609166
Native American Myopathy
High palate, Bifid uvula, Camptodactyly, Submucous cleft soft palate, Downturned corners of mouth... ORPHA:168572
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Slender long bone, Bifid uvula, Cli... ORPHA:2554
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, High palate, Hyperextensibility of the finger joints, Deep philtrum, Clinoda... OMIM:115150
Branchioskeletogenital Syndrome
Abnormality of the dentition, Bifid uvula, Submucous cleft hard palate, Short philtrum, Pectus ex... ORPHA:1299
Lenz-Majewski Hyperostotic Dwarfism
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Abnormal... ORPHA:2658
Coffin-Lowry Syndrome
Dental malocclusion, Coxa valga, Tapered finger, Hyperextensibility of the finger joints, Short m... OMIM:303600
Marden-Walker Syndrome
Camptodactyly of finger, Pyloric stenosis, Bifid uvula, Radioulnar synostosis, Submucous cleft ha... ORPHA:2461
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Pyloric stenosis, Submucous cleft hard palate, Congenital hip disloca... ORPHA:457279
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Genu valgum, Hip contracture, Wide mouth, Deep philtrum, Microdontia, Short digit, Submucous clef... OMIM:619194
Walker-Warburg Syndrome
Metatarsus valgus, Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:899
Double Outlet Right Ventricle
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate ORPHA:3426
Desmosterolosis
Bifid uvula, Submucous cleft hard palate, Metatarsus adductus, Intestinal malrotation, Narrow mou... ORPHA:35107
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, Polydactyly, Tapered finger, Hallux valgus, Cleft soft palate, Widely spaced teeth... ORPHA:268261
Dubowitz Syndrome
Hyperactivity, High palate, Delayed eruption of teeth, Velopharyngeal insufficiency, Clinodactyly... OMIM:223370
Treacher Collins Syndrome 1
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cleft palate OMIM:154500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Wide mouth, Widely spaced teeth, Short philtrum, Submucous cleft soft palate, Impu... OMIM:300967
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Submucous cleft hard palate OMIM:617660
Blackfan-Diamond Anemia
Triphalangeal thumb, Absent thumb, High palate, Cleft soft palate, Adenocarcinoma of the colon, P... ORPHA:124
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Cleft palate, T... ORPHA:2250
Viss Syndrome
Bifid tongue, Cleft soft palate, Bifid uvula, Hip dislocation, Pectus excavatum, Submucous cleft ... OMIM:619472
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Velocardiofacial Syndrome
Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, O... OMIM:192430
Craniorachischisis
Bifid sternum, Anal atresia ORPHA:63260
Restrictive Dermopathy 1
Overtubulated long bones, Thin clavicles, Natal tooth, Submucous cleft hard palate, Congenital ps... OMIM:275210
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip subluxation, Tapered finger, Cleft soft palate, Delayed eruption of teeth, Slender finger, Dy... OMIM:619503
Neu-Laxova Syndrome
Abnormality of the philtrum, Bifid uvula, Submucous cleft hard palate, Everted lower lip vermilio... ORPHA:2671
Tolchin-Le Caignec Syndrome
High palate, Submucous cleft hard palate, Clinodactyly of the 5th finger, Narrow mouth, Attention... OMIM:618971
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Abnormal finger morphology, Large iliac wing, Aplasia/hypoplasia of the femur,... ORPHA:2636
Zttk Syndrome
High palate, Small hand, Bifid uvula, Submucous cleft hard palate, Short philtrum, Cervical ribs,... OMIM:617140
Cardiofaciocutaneous Syndrome
Genu valgum, High palate, Long philtrum, Submucous cleft hard palate, Pectus excavatum, Abnormal ... ORPHA:1340
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Gastric varix, Esophageal varix, Unila... OMIM:301068
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Genu valgum, Cleft soft palate, Intestinal malrotation, Downturned corners of mouth, Smooth philtrum OMIM:619321
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Median cleft lip, Solitary median maxillary central incisor, Cleft p... OMIM:301043
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Bifid ribs, 11 pairs of ribs, Cleft upper lip, Short 5th finger, Long ph... OMIM:607872
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent thumb, Slender long bone, Bifid uvula, Short philtrum, Cervical ribs, Submucous cleft soft... ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Pectus excavatum, Broad hal... ORPHA:261537
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Dental malocclusion, Long philtrum, Delayed eruption of teeth, Oligodontia, B... OMIM:300166
Mowat-Wilson Syndrome
Tapered finger, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Pectus exca... ORPHA:2152
Neuroocular Syndrome
Tapered finger, Hyperextensibility of the finger joints, Tibial torsion, Widely spaced teeth, Ank... OMIM:619539
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Pectus excavatum, Broad hal... ORPHA:261552
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Attention deficit hyperactivity disorder OMIM:618891
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, 2-3 toe syndactyly, Hypoplastic ilia, Natal tooth, Hip dysplasia, Hypodo... ORPHA:3455
Coffin-Siris Syndrome 12
Hip subluxation, High palate, Velopharyngeal insufficiency, Radioulnar synostosis, Submucous clef... OMIM:619325
Restrictive Dermopathy
Camptodactyly of finger, Thin clavicles, Natal tooth, Microcolon, Submucous cleft hard palate, Ap... ORPHA:1662
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Neoplasm of the tongue, Bifid uvula, Submucous cleft hard palate, Clinod... ORPHA:3047
Mowat-Wilson Syndrome
Delayed eruption of teeth, Widely spaced teeth, Aganglionic megacolon, Pyloric stenosis, Submucou... OMIM:235730
Holoprosencephaly 2
Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solitary median maxillary ... OMIM:157170

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 Sh3pxd2a

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 Sh3pxd2a.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Sh3pxd2atm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Sh3pxd2atm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sh3pxd2atm1b(EUCOMM)Wts PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sh3pxd2atm1b(EUCOMM)Wts