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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.

X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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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 lip, Cleft palate OMIM:600625
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Syngnathia
Cleft palate OMIM:119550
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
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 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, Cleft lip, Bifid uvula ORPHA:99771
Uvula, Bifid
Bifid uvula OMIM:192100
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology 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, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Dysphagia OMIM:617732
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Cleft hard palate, Delayed epiphyseal ossification, Fragment... ORPHA:166016
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... 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
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia ORPHA:99772
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Dysphagia OMIM:201550
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... ORPHA:199306
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... OMIM:618779
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, High, narrow pal... ORPHA:957
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... ORPHA:93316
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous cleft soft palate, ... OMIM:612292
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... OMIM:616331
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, T... OMIM:618529
Orofaciodigital Syndrome Type 10
Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate, Accessory oral frenulum, Shor... ORPHA:2756
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Orofaciodigital Syndrome Iii
Pectus excavatum, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot... OMIM:258850
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th... OMIM:117650
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Short thumb, Sub... ORPHA:2712
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Pec... OMIM:114300
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Atten... OMIM:164220
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Acetabular erosions, Bifid uvula, Finger joint hypermobility OMIM:601492
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Pectus excavatum, Cutaneou... OMIM:606851
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submu... OMIM:614701
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft lip, Supernumer... OMIM:619122
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... ORPHA:2751
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Loeys-Dietz Syndrome 5
Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic inf... OMIM:615582
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Submucous cleft hard pal... ORPHA:2804
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Buratti-Harel Syndrome
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... OMIM:619314
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Aggressive behavior, Tapered finger, Submucous cleft hard palate, Downt... OMIM:619680
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... OMIM:186500
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide mouth, Unilateral clef... OMIM:619103
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, High iliac wing, Cle... ORPHA:2780
Hydrolethalus
Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral... ORPHA:2189
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... ORPHA:2752
Stickler Syndrome, Type I
Arachnodactyly, Pectus excavatum, Irregular femoral epiphysis, Submucous cleft hard palate, Pierr... OMIM:108300
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate ORPHA:99742
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... OMIM:619950
Myhre Syndrome
Brachydactyly, Narrow mouth, Submucous cleft hard palate, Abnormal rib morphology, Gingival cleft... ORPHA:2588
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... OMIM:608670
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, Premature loss of teeth, Abnormal met... OMIM:224300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Att... OMIM:619227
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... OMIM:612863
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Aggressive behavior, Pyloric stenosis, Subm... ORPHA:457279
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Submucous c... ORPHA:178303
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification,... OMIM:114290
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Submucous cleft hard palate, Epiphyseal stippling, Abnormal pelvic girdle bone mor... OMIM:222765
Meier-Gorlin Syndrome 5
Irregular femoral epiphysis, Patellar aplasia, Submucous cleft hard palate, Slender long bone, Th... OMIM:613805
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Cleft hard pal... OMIM:300990
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum, Adducted thumb ORPHA:293725
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Cleft palate ORPHA:250999
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Abnormality of the dentition, Pectus excavatum, Open bit... OMIM:115150
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate, Short distal phalanx of finger OMIM:609166
Dubowitz Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal... ORPHA:235
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft... ORPHA:2753
Native American Myopathy
Cleft palate, Downturned corners of mouth, High palate, Camptodactyly, Submucous cleft soft palat... ORPHA:168572
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, High, narrow palate, Patellar aplasia, Abnormal rib m... ORPHA:2554
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Thoracolumbar kyphoscoliosis, Unilateral cleft palate, Abnormal... ORPHA:1299
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, Abnormal metacarpal morp... ORPHA:2658
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pectus excavatum, Aggr... ORPHA:268261
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Pectus ... OMIM:303600
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Pectus excavatum, Metatarsus adductus, Pyloric stenosis,... ORPHA:2461
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Pectus excavatum, Deep philtrum, Thin lower lip vermil... OMIM:619194
Velocardiofacial Syndrome
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... OMIM:192430
Walker-Warburg Syndrome
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Dental crowding, Impulsivity, Aggressive behavior, High, narrow palate, Narrow mou... OMIM:300967
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth ORPHA:3426
Desmosterolosis
Intestinal malrotation, Metatarsus adductus, Submucous cleft hard palate, Cleft palate, Narrow mo... ORPHA:35107
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Hyperactivity, Carious teeth, Velopharyngeal insufficiency... OMIM:223370
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Dental crowding, Deep phil... OMIM:619503
Diamond-Blackfan Anemia
Cleft soft palate, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Cleft lip, Hi... ORPHA:124
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Viss Syndrome
Chronic gastritis, High, narrow palate, Pectus carinatum, High palate, Broad uvula, Bifid uvula, ... OMIM:619472
Restrictive Dermopathy 1
Natal tooth, Rocker bottom foot, Thin clavicles, Narrow mouth, Submucous cleft hard palate, Overt... OMIM:275210
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Craniorachischisis
Bifid sternum, Anal atresia ORPHA:63260
Chromosome 1P36 Deletion Syndrome, Distal
Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Self-mutilation, Abnor... OMIM:607872
Neu-Laxova Syndrome
Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, E... ORPHA:2671
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Aplastic clavicle, Large iliac wing,... ORPHA:2636
Zttk Syndrome
Abnormality of the dentition, Submucous cleft hard palate, Rib fusion, Small hand, Short foot, Do... OMIM:617140
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Pectus excavatum, Submucous cleft hard palate, Genu valgum, High pal... ORPHA:1340
Tolchin-Le Caignec Syndrome
Arachnodactyly, Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorde... OMIM:618971
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Pectus carinatum, Short philtrum, A... ORPHA:261537
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum OMIM:619321
Holoprosencephaly 13, X-Linked
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... OMIM:301043
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Pectus carinatum, Widely spaced tee... ORPHA:2152
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Pectus excavatum, Shor... OMIM:619539
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Absent thumb, Rib fusion, Cleft palate, Downturned corners of mouth, Slender long... ORPHA:500150
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, 2-3 toe cutane... OMIM:300166
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Pectus carinatum, Short philtrum, A... ORPHA:261552
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Attention deficit hyperactivity disorder, Submucous cleft hard palate, Compulsive behaviors OMIM:618891
Coffin-Siris Syndrome 12
Pectus excavatum, Short thumb, Slender finger, Velopharyngeal insufficiency, Submucous cleft hard... OMIM:619325
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Natal tooth, Short femur, Thin upper lip vermilion, Camptodactyly of fin... ORPHA:3455
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Camptodactyly of finge... ORPHA:1662
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Submucous cleft hard palate, Neoplasm of the tongue, Clinodactyly of the... ORPHA:3047
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pectus excavatum, Pyloric stenosis, Submucous c... OMIM:235730
Holoprosencephaly 2
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... 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 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 PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Sh3pxd2atm1b(EUCOMM)Wtsi PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome open research (January 2016) Sh3pxd2atm1b(EUCOMM)Wtsi PMC5159622

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MGI Allele Allele Type Produced
Sh3pxd2atm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Sh3pxd2atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sh3pxd2atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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