Gene Summary

Name:
solute carrier family 29 (nucleoside transporters), member 4
Synonyms:
mPMAT,  ENT4

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
abnormal ulna morphology Slc29a4tm1b(KOMP)Wtsi HOM Early adult 1.18×10-05
abnormal radius morphology Slc29a4tm1b(KOMP)Wtsi HOM Early adult 1.18×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Adult LacZ

LacZ Images Wholemount

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Slc29a4 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 Slc29a4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Dislocated radial head, Limited elbow extension, Radioulnar synostosis OMIM:179300
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius ORPHA:1447
Metaphyseal Anadysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/H... ORPHA:1040
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Radial bowing, Madelung deformity DECIPHER:58
Ulnar Hypoplasia-Split Foot Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot ORPHA:1122
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Langer Mesomelic Dysplasia
Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the ulna, Rudimenta... OMIM:249700
Radial Hemimelia
Deviation of the hand or of fingers of the hand, Abnormality of the trapezium, Aplasia/Hypoplasia... ORPHA:93321
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Madelung deformity, Short tibia OMIM:127350
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia OMIM:156232
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormality of the ulna, Hand oligodactyly, Abnormality of the me... ORPHA:3104
Prenatal Bowing
Bowing of the long bones OMIM:264050
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... ORPHA:93388
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Leri-Weill Dyschondrosteosis
Abnormality of the carpal bones, Madelung deformity, Tibial bowing, Radial bowing, Abnormal metat... OMIM:127300
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus OMIM:276821
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Tibial bowing, Genu varum, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Bil... ORPHA:1972
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Radioulnar dislocation, Fibular hypoplasia, Ul... OMIM:164900
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand polydactyly, Bra... ORPHA:1278
Acrorenal Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the r... ORPHA:971
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the radius, Abnormality of the metaphysis, Abnorma... ORPHA:1837
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Exostoses, Multiple, Type Ii
Genu valgum, Coxa vara, Short metacarpal, Protuberances at ends of long bones, Pelvic bone exosto... OMIM:133701
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Exostoses, Multiple, Type I
Genu valgum, Coxa vara, Short metacarpal, Protuberances at ends of long bones, Pelvic bone exosto... OMIM:133700
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Limited pronation/supination of forearm, Radial bowing, Ulnar bowing, Hip dislocation, Shallow ac... OMIM:605432
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Radial Heads, Posterior Dislocation Of
Limited elbow extension, Posterior radial head dislocation OMIM:179200
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Micromelia, Hypoplasia of the radius ORPHA:2252
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Femoral bowing, Short long... ORPHA:174
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius ORPHA:3469
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Ulnar deviation of finger, Hypoplasia of the radius, E... ORPHA:2249
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Syndactyly, Hypoplasia of the radius OMIM:212780
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Short thumb, Distally placed thumb, Hypoplasia of the radius OMIM:179270
Boomerang Dysplasia
Abnormality of the ulna, Abnormality of femur morphology, Finger syndactyly, Abnormality of the r... ORPHA:1263
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius, Single tran... OMIM:113470
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... OMIM:142900
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly OMIM:276822
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia, Madelung deformity ORPHA:1765
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Arthralgia of the hip, Dysplasia of the femoral head, Broad radial metaph... ORPHA:99642
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Faciocardiomelic Dysplasia, Lethal
Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thumb, Hypoplasia of the ul... OMIM:227270
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Short phalanx of finger, Short lo... OMIM:300106
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Hypoplasia of the... ORPHA:75508
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Short metacarpal, Mesomelia, ... OMIM:617604
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand OMIM:277150
Acromesomelic Dysplasia 1
Broad metatarsal, Broad metacarpals, Radial bowing, Broad finger, Short metatarsal, Broad phalanx... OMIM:602875
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Radial bowing, Short finger, Broad finger, Short meta... OMIM:619636
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Short middle phalanx of finger, Genu varum, Short greater sciatic notc... ORPHA:93314
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal radial head dislocation, Hand oligodactyly, Proximal placement of thumb, Hypoplasia of t... OMIM:602418
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Rhizomelia, Hitchhiker thumb, Widened distal p... OMIM:108721
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulnar hypoplasia, Bilatera... OMIM:608571
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Flared metaphysis... OMIM:211350
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Prominent calca... ORPHA:83468
Radial-Renal Syndrome
Absent thumb, Absent radius OMIM:179280
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Tibial bowing, Short middle phalanx of finger, Proximal femoral epiphysiolysis, Hypoplastic scapu... OMIM:210720
Multiple Osteochondromas
Short lower limbs, Abnormal lower limb bone morphology, Femoroacetabular impingement, Abnormal pe... ORPHA:321
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Abnormal digit morphology, Absent thumb, Forearm reduction defects, Hyp... OMIM:614900
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Hypoplasia of prox... OMIM:184253
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Trisomy 4P
Preaxial hand polydactyly, Radial club hand, Camptodactyly of finger ORPHA:1738
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Absent thumb, Bowed forearm bones, Absent radius OMIM:602200
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Mietens Syndrome
Metatarsus adductus, Elbow ankylosis, Avascular necrosis of the capital femoral epiphysis, Hypopl... ORPHA:2557
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, Hyp... OMIM:617866
Van Den Ende-Gupta Syndrome
Hallux valgus, Talipes equinovarus, Glenoid fossa hypoplasia, Ulnar bowing, Joint contracture of ... OMIM:600920
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormality of the ulna, Abnormality of the metacarpal bones ORPHA:2233
Ritscher-Schinzel Syndrome 3
Epiphyseal stippling, Shortening of all distal phalanges of the fingers, Ulnar bowing, Short 1st ... OMIM:619135
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Broad hallux, Bulbous tips of toes, Femoral bowin... OMIM:304120
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormality of fi... ORPHA:3035
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Syndactyly, Mesomelia OMIM:228940
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of the elbow, Hammertoe, Hypoplasia of the radius, Abnormality of fin... ORPHA:2319
Prader-Willi Syndrome Due To Imprinting Mutation
Short foot, Small hand, Abnormality of ulnar metaphysis, Narrow palm ORPHA:177910
Acrodysostosis
Abnormality of the ulna, Cone-shaped epiphysis, Epiphyseal stippling, Short metatarsal, Hypoplasi... ORPHA:950
W Syndrome
Metatarsus adductus, Radial bowing, Cubitus valgus, Camptodactyly, Elbow dislocation, Clinodactyl... ORPHA:2804
Pallister W Syndrome
Metatarsus adductus, Radial bowing, Cubitus valgus, Joint contracture of the hand, Radial deviati... OMIM:311450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Tapered finger, Metaphyseal irregularity, Dislocated radial head, Hip dislocation, Hypoplasia of ... OMIM:618395
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Genu v... OMIM:304950
Dysspondyloenchondromatosis
Genu valgum, Abnormality of fibula morphology, Abnormality of ulnar metaphysis, Metaphyseal encho... ORPHA:85198
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... ORPHA:2756
Nail-Patella Syndrome
Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Iliac horns, Triceps aplasia, Gle... OMIM:161200
Marshall Syndrome
Irregular proximal tibial epiphyses, Radial bowing, Irregular distal femoral epiphysis, Ulnar bow... OMIM:154780
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the han... ORPHA:2256
Fanconi Anemia, Complementation Group O
Short thumb, Absent thumb, Hypoplasia of the radius OMIM:613390
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Abnormality of the radius ORPHA:2165
Atelosteogenesis, Type I
Fibular aplasia, Tibial bowing, Radial bowing, Distal tapering femur, Talipes equinovarus, Club-s... OMIM:108720
Phocomelia, Schinzel Type
Fibular aplasia, Radial bowing, Hand oligodactyly, Aplasia of the ulna, Bowing of the long bones,... ORPHA:2879
Ulnar-Mammary Syndrome
Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of the ulna, Hypopla... OMIM:181450
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Short humerus, Proximal placement of thumb, Absent radius OMIM:314390
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Rhizomelia, Abnormality of the metaphysis, Abnormality of the ra... ORPHA:93329
Rhyns Syndrome
Short femoral neck, Radial bowing, Brachydactyly OMIM:602152
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia o... ORPHA:1307
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Narrow pelvis bone, Ulnar bowing, Arachnodactyly, Camptodactyly, Femoral bowi... OMIM:207410
Microcephaly-Micromelia Syndrome
Talipes equinovarus, Absent radius, Short tibia, Forearm undergrowth, Oligodactyly, Micromelia, H... OMIM:251230
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Synostosis of carpal bones, Hypoplasia of the radius, Finger syndac... ORPHA:3258
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand OMIM:276950
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Clinodactyly ORPHA:357175
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Aplasi... ORPHA:959
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly ORPHA:246
Sc phocomelia syndrome
Phocomelia, Aplasia of the ulna, Absent radius, Radial deviation of finger, Short thumb, Clinodac... OMIM:269000
Mental Retardation, Autosomal Recessive 35
Hypoplasia of the ulna, Clinodactyly OMIM:615162
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Atelosteogenesis Type Iii
Fibular aplasia, Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Absent hum... ORPHA:56305
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Absent radius, Aplasia of the 1st metacarpal, Hypoplasia of the ... ORPHA:1352
Ivic Syndrome
Triphalangeal thumb, Aplastic clavicle, Synostosis of carpal bones, Hypoplasia of the radius, Sho... ORPHA:2307
Tetraploidy
Radial club hand ORPHA:3305
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Talipes equinovarus, Cubitus valgus, Camptodactyly of finger, Short phalanx of finger, Small epip... OMIM:143095
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Hip subluxation, Short long bone, Delay... OMIM:271640
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Phocomelia, Aplastic pubic bones, Congenital pse... OMIM:276820
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia of the 1st metacarpal, Absent radius OMIM:600123
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Ulnar deviation of the ha... OMIM:602613
3M Syndrome
Rocker bottom foot, Abnormality of the elbow, Congenital hip dislocation, Abnormality of the meta... ORPHA:2616
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Ectrodactyly, Hypoplasia of the radius ORPHA:3016
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Micromelia, Brachydactyly, Hypoplast... OMIM:617895
Fanconi Anemia, Complementation Group W
Abnormality of radial ray, Absent thumb, Hypoplasia of the radius OMIM:617784
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the radius, Broad ulna, Short thumb, Met... ORPHA:2909
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... OMIM:607323
Baller-Gerold Syndrome
Aplasia of metacarpal bones, Carpal bone aplasia, Aplasia/Hypoplasia of the thumb, Ulnar bowing, ... OMIM:218600
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Toe syndactyly, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of th... OMIM:154400
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Genu varum, Patellar aplasia, Adducted thumb,... OMIM:274000
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Hypoplasia of the radius,... OMIM:200600
Martsolf Syndrome 1
Metatarsus adductus, Slender ulna, Talipes equinovarus, Short metacarpal, Short palm, Short toe, ... OMIM:212720
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Adducted thumb, Decreased fibular diameter, Limb undergrowth, Fractured radius, Short femur, Flar... OMIM:616897
Holzgreve Syndrome
Abnormality of the ulna, Abnormality of the metacarpal bones, Hand polydactyly ORPHA:2167
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Short metacarpal, Slender long bone, Femoral bowing OMIM:610915
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Fibular hypoplasia, Proximal placement of thumb, H... OMIM:268305
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip dislocation, R... ORPHA:958
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... OMIM:208500
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Abnormal metacarpal morphology, Ta... ORPHA:251014
Moebius Syndrome
Abnormality of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia... ORPHA:570
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Hypoplasia of the radius, Syndactyly, Short thumb, Hypoplasia of the ... OMIM:263750
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Talipes equinovarus, Hypoplastic iliac wing, Limb undergrowth, Ulnar bowing... OMIM:263650
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Talipes equinovarus, Phocomelia, Aplasia of the ulna, Hypoplasia of the radius, ... OMIM:266910
Distal Trisomy 5Q
Hypoplasia of the ulna, Brachydactyly, Absent thumb, Hypoplasia of the radius ORPHA:96097
Roberts Syndrome
Patellar aplasia, Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormality of the upper limb, Bow... ORPHA:3103
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Phocomelia OMIM:184705
Acrorenal-Mandibular Syndrome
Toe syndactyly, Hypoplastic scapulae, Hypoplasia of the radius, Split hand, Foot polydactyly, Hip... OMIM:200980
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
2-3 toe syndactyly, Tapered finger, Partial absence of thumb, Unilateral radial aplasia, Aplasia ... ORPHA:476126
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Abnormal diaphysis morphology, Abnormality of the uln... ORPHA:1328
Mirage Syndrome
Overlapping fingers, Rocker bottom foot, Radial club hand, Talipes equinovarus OMIM:617053
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Foot polydactyly, Hypoplas... ORPHA:3186
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Tarsal synostosis, Rocker bottom foot, Ulnar bowing, Joint contracture of the hand, Arachnodactyl... OMIM:201750
Cat Eye Syndrome
Absent radius OMIM:115470
Poland Syndrome
Abnormality of the ulna, Cone-shaped epiphysis, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplas... ORPHA:2911
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Abnormality of femur morphology, Bowing of the long bones, Abnormality o... ORPHA:249
Microgastria-Limb Reduction Defects Association
Hand oligodactyly, Phocomelia, Hypoplasia of the radius, Absent thumb, Hypoplasia of the ulna OMIM:156810
Duane Retraction Syndrome
Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radi... ORPHA:233
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna OMIM:615398
Fanconi Anemia, Complementation Group E
Short thumb, Absent thumb, Absent radius, Complete duplication of thumb phalanx OMIM:600901
Fanconi Anemia, Complementation Group A
Short thumb, Absent thumb, Absent radius, Complete duplication of thumb phalanx OMIM:227650
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Short distal phalanx of finger ORPHA:52
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb OMIM:300514
Ulbright-Hodes Syndrome
Fibular aplasia, Abnormal forearm bone morphology, Talipes equinovarus, Phocomelia, Hypoplasia of... ORPHA:3404
Fanconi Anemia, Complementation Group D2
Absent radius, Complete duplication of thumb phalanx, Short thumb, Absent thumb, Partial duplicat... OMIM:227646
Fanconi Anemia, Complementation Group C
Short thumb, Absent thumb, Absent radius, Complete duplication of thumb phalanx OMIM:227645
Lacrimoauriculodentodigital Syndrome
Radial deviation of the 3rd finger, Absent proximal phalanx of thumb, Hypoplasia of the radius, A... OMIM:149730
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Toe syndactyly, Triphalangeal thumb, Abno... ORPHA:84
Pallister-Hall Syndrome
Toe syndactyly, Polydactyly affecting the 4th finger, Radial bowing, Broad thumb, Bilateral posta... ORPHA:672
Cardiofaciocutaneous Syndrome
Abnormality of the ulna, Palmoplantar keratoderma, Cubitus valgus, Genu valgum, Deep palmar crease ORPHA:1340
Vater/Vacterl Association
Triphalangeal thumb, Hypoplasia of the radius, Absent radius, Preaxial polydactyly, Syndactyly, S... OMIM:192350
Cornelia De Lange Syndrome
Toe syndactyly, Abnormality of the ulna, Oligodactyly, Small hand, Proximal placement of thumb, H... ORPHA:199
Turner Syndrome
Irregular proximal tibial epiphyses, Short 5th metacarpal, Abnormal forearm bone morphology, Spla... ORPHA:881
Mosaic Monosomy X
Irregular proximal tibial epiphyses, Short 5th metacarpal, Abnormal forearm bone morphology, Spla... ORPHA:99228
Monosomy X
Irregular proximal tibial epiphyses, Short 5th metacarpal, Abnormal forearm bone morphology, Spla... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Irregular proximal tibial epiphyses, Short 5th metacarpal, Abnormal forearm bone morphology, Spla... ORPHA:99413
Charge Syndrome
Bifid femur, Absent tibia, Hand monodactyly, Absent radius, Down-sloping shoulders, Abnormal palm... OMIM:214800
Alagille Syndrome 1
Hypoplasia of the ulna, Short distal phalanx of finger OMIM:118450
Aspartylglucosaminuria
Abnormality of the ulna ORPHA:93

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 Slc29a4

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 Slc29a4.

No publications found that use IMPC mice or data for Slc29a4.

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MGI Allele Allele Type Produced
Slc29a4tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Slc29a4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc29a4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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