Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 85 images

View all 6 images

View all 6 images

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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Syngnathia
Cleft palate OMIM:119550
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Cleft Soft Palate
Cleft soft palate OMIM:119570
Uvula, Bifid
Bifid uvula OMIM:192100
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ... OMIM:216300
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Cleft hard palate, Small epiphyses, Delayed epiphyseal ossificat... ORPHA:166016
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Cleft Velum
Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate ORPHA:2736
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, Postaxial hand polydactyly, High... OMIM:620107
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Palate fistula, B... ORPHA:199306
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Hypodontia, Tapered finger, Glossoptosis, Camptodactyl... ORPHA:3201
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Triangular mouth, Cleft soft palate, Gingival overgrowth, Prominent fingertip pads, A... OMIM:618529
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Long philtrum, Triangular mouth, Cleft soft palate, D... OMIM:616331
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... OMIM:192445
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Birk-Barel Syndrome
Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion... OMIM:612292
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Cleft soft palate, Short 4th finger, Ol... ORPHA:2756
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Congenital hip dislocation, Camptodactyly of toe, Short phalanx of... OMIM:114300
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Genu valgum, Clinodactyly of the 5th finger, Hammertoe, Solitary medi... ORPHA:2712
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Microdontia, Short sternum, Bi... OMIM:258850
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil... OMIM:117650
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Cree Mental Retardation Syndrome
Rocker bottom foot, Cleft soft palate, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hyp... OMIM:606851
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Narrow mouth, Attention deficit hyperactivity disorder, Bifid uvula... OMIM:164220
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Unilateral cleft palate, Supernumerary ribs, Unilateral cleft... OMIM:619122
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate, Acetabular erosions, Finger joint hypermobility OMIM:601492
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Pectus carinatum, 2-3 toe s... OMIM:614701
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Prominent fingertip pads, ... OMIM:617412
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Neonatal death, Oral mucosal blisters, Congenital pyloric atresia OMIM:619817
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Cleft soft palate, Pectus carinatum, Bilateral coxa valga, Scapular w... OMIM:615582
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Clinodactyly of the 5th finger, Thin upper lip vermilion, Cleft soft palate OMIM:620183
W Syndrome
Hypoplasia of the ulna, Broad uvula, Camptodactyly, Metatarsus adductus, Upper lip pit, Radial bo... ORPHA:2804
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Intellectual Developmental Disorder, Autosomal Dominant 73
Everted lower lip vermilion, Prominent interphalangeal joints, Broad philtrum, Aggressive behavio... OMIM:620450
Marbach-Schaaf Neurodevelopmental Syndrome
Aggressive behavior, Recurrent hand flapping, Downturned corners of mouth, Brachydactyly, Attenti... OMIM:619680
Buratti-Harel Syndrome
Clinodactyly of the 5th finger, High palate, Broad thumb, Velopharyngeal insufficiency, Bifid uvu... OMIM:619314
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Head-banging, Unilateral cleft palate, Frequent temper tantrums, Wide ... OMIM:619103
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Abnormality of the dentition, Ir... ORPHA:2752
Hydrolethalus
Gingival cleft, Postaxial hand polydactyly, Cleft palate, Bifid uvula, Unilateral cleft lip, Subm... ORPHA:2189
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, High, narrow palate, Asymmetry of the thorax, Delayed eruption of... ORPHA:2780
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Pectus excavatum, Arachnodactyly, Bifid uvula, Irregular f... OMIM:108300
Myhre Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Large iliac wing, Narrow m... ORPHA:2588
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Prominent fingertip pads, Microdontia, Impulsivity, Eclabion, Wide mouth, Bruxism, Agitation, Sho... OMIM:619950
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Pectus excavatum, Tracheoesophageal fistula, Sprengel anomaly, Attention defi... OMIM:619227
Dysosteosclerosis
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches... OMIM:224300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5th finger, Oligo... OMIM:608670
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Submucous cl... OMIM:618106
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Conical tooth, Finger syndactyly, Delayed er... ORPHA:1071
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Sandal gap, Prominent fingertip pads, High palate, Smooth philtrum, Long phi... OMIM:612863
Limb-Mammary Syndrome
Cleft hard palate, Clinodactyly of the 5th finger, Hypodontia, Oligodactyly, Bifid uvula, Cleft p... ORPHA:69085
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, High palate, Congenital hip dislocation, Contracture of the proximal in... ORPHA:457279
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Abnormality of the dentition, Camptodactyly of finger, Long philtr... ORPHA:178303
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pectus carinatum, Fe... OMIM:114290
Rhizomelic Chondrodysplasia Punctata, Type 2
Epiphyseal stippling, Stippled calcification proximal humeral epiphyses, Abnormal pelvic girdle b... OMIM:222765
Meier-Gorlin Syndrome 5
Slender long bone, Hypoplasia of the capital femoral epiphysis, Patellar aplasia, Irregular femor... OMIM:613805
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Adducted thumb, Cleft soft palate, Smooth philtrum, Short philtrum ORPHA:293725
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Cleft palate, Thick vermilion border ORPHA:250999
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Cleft hard palate, Delayed erupti... OMIM:300990
Holt-Oram Syndrome
Proximal placement of thumb, Pectus excavatum, Aplasia of the 1st metacarpal, 1-2 finger syndacty... OMIM:142900
Cardiofaciocutaneous Syndrome 1
Clinodactyly of the 5th finger, Tongue thrusting, Hyperextensibility of the finger joints, Pectus... OMIM:115150
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Submucous cleft hard palate OMIM:609166
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Clinodactyly of the 5th finger, Sandal gap, Aplasia/Hypoplasia of... ORPHA:235
Orofaciodigital Syndrome Type 4
Abnormal oral frenulum morphology, Bifid uvula, Genu varum, Short philtrum, Perineal fistula, Pos... ORPHA:2753
Ear-Patella-Short Stature Syndrome
High, narrow palate, Clinodactyly of the 5th finger, Slender long bone, Narrow mouth, Abnormal ri... ORPHA:2554
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m... ORPHA:1299
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, High, narrow palate, Abnormal metacarpal morphology, Finger synda... ORPHA:2658
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Supernumerary tooth, Widely spaced teet... ORPHA:268261
Native American Myopathy
High palate, Camptodactyly, Downturned corners of mouth, Bifid uvula, Cleft palate, Submucous cle... ORPHA:168572
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Broad distal phalanx of finger, Genu valgum, Broad distal phalanx of the toes, Thin lower lip ver... OMIM:619194
Marden-Walker Syndrome
Pectus carinatum, Narrow mouth, Pectus excavatum, Metatarsus adductus, Camptodactyly of finger, A... ORPHA:2461
Coffin-Lowry Syndrome
Narrow palate, Rectal prolapse, Thick lower lip vermilion, Widely spaced teeth, Bifid sternum, Pe... OMIM:303600
Walker-Warburg Syndrome
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open mouth, Submucous cleft ha... OMIM:192430
Double Outlet Right Ventricle
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth ORPHA:3426
Mullegama-Klein-Martinez Syndrome
Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Attention deficit hyperactivity diso... OMIM:301022
Desmosterolosis
Narrow mouth, Metatarsus adductus, Intestinal malrotation, Bifid uvula, Cleft palate, Submucous c... ORPHA:35107
Dubowitz Syndrome
Clinodactyly of the 5th finger, Delayed eruption of teeth, Hyperactivity, High palate, Carious te... OMIM:223370
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Narrow mouth, Synostos... OMIM:300967
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Internally rotated shoulders, Impulsivity, Wide mouth, Dysphagia, Bruxism, Esoph... OMIM:619503
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology OMIM:154500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Viss Syndrome
Rocker bottom foot, Pectus carinatum, Pectus excavatum, Intestinal malrotation, Arachnodactyly, M... OMIM:619472
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c... ORPHA:2250
Diamond-Blackfan Anemia
Triphalangeal thumb, Cleft soft palate, High palate, Adenocarcinoma of the colon, Sprengel anomal... ORPHA:124
Restrictive Dermopathy 1
Rocker bottom foot, Stillbirth, Thin clavicles, Short clavicles, Osteolytic defects of the distal... OMIM:275210
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Neu-Laxova Syndrome
Abnormality of the philtrum, Everted lower lip vermilion, Cleft palate, Bifid uvula, Thick vermil... ORPHA:2671
Craniorachischisis
Anal atresia, Bifid sternum ORPHA:63260
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal metaphysis morphology, Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, ... ORPHA:2636
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Dysphagia, Abnormality of the anus, Long philtrum, Short 5th finger, Aggressive beha... OMIM:607872
Zttk Syndrome
Cervical ribs, Thin vermilion border, Intestinal atresia, Short philtrum, High palate, Abnormalit... OMIM:617140
Cardiofaciocutaneous Syndrome
Genu valgum, High palate, Pectus excavatum, Abnormal morphology of ulna, Long philtrum, Submucous... ORPHA:1340
Hardikar Syndrome
Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilateral cleft pala... OMIM:301068
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Midline facial cleft, Cleft upper lip, Cleft palate, Submucous cleft soft pa... OMIM:603671
Tolchin-Le Caignec Syndrome
Clinodactyly of the 5th finger, Narrow mouth, High palate, Arachnodactyly, Attention deficit hype... OMIM:618971
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pectus carinatum, Dental crowding, Pectus excavatum, Arachnodactyly, Bifid uvula, Syndactyly, Dys... ORPHA:261537
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
Solitary median maxillary central incisor, Median cleft palate, Cleft palate, Submucous cleft har... OMIM:301043
Mowat-Wilson Syndrome
Pectus carinatum, Dental crowding, Pectus excavatum, Everted lower lip vermilion, Bifid uvula, Sy... ORPHA:2152
Neuroocular Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Short uvula, Increased overbite, Hyperextens... OMIM:619539
Microphthalmia, Syndromic 2
Supernumerary tooth, 2-3 toe cutaneous syndactyly, Radiculomegaly, Hammertoe, Sandal gap, Delayed... OMIM:300166
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Attention deficit hyperactivity disorder, Submucous cleft hard palate, Compulsive behaviors OMIM:618891
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pectus carinatum, Dental crowding, Pectus excavatum, Arachnodactyly, Bifid uvula, Syndactyly, Dys... ORPHA:261552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Slender long bone, Rib fusion, Arachnodactyly, Downturned ... ORPHA:500150
Coffin-Siris Syndrome 12
Hip subluxation, High palate, Pectus excavatum, Slender finger, Broad thumb, Velopharyngeal insuf... OMIM:619325
Restrictive Dermopathy
Thin clavicles, Thin ribs, Thoracic kyphoscoliosis, Narrow mouth, Microcolon, Aplasia/Hypoplasia ... ORPHA:1662
Holoprosencephaly 2
Solitary median maxillary central incisor, Bilateral cleft palate, Median cleft palate, Bifid uvu... OMIM:157170
Wiedemann-Rautenstrauch Syndrome
Short philtrum, Premature loss of teeth, 2-3 toe syndactyly, Narrow mouth, Hypoplastic ilia, Shor... ORPHA:3455
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Clinodactyly of the 5th finger, Neoplasm of the tongue, Camptodactyly of finger, Bifid uvula, Sub... ORPHA:3047
Mowat-Wilson Syndrome
Aganglionic megacolon, Widely spaced teeth, Tooth malposition, Delayed eruption of teeth, Pectus ... OMIM:235730

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 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SRC and TKS5 mediated podosome formation in fibroblasts promotes extracellular matrix invasion and pulmonary fibrosis. Nature communications (September 2023) Sh3pxd2atm1a(EUCOMM)Wtsi/+ PMC10514346
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