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Gene: Snapc4 MGI:2443935

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Gene Summary

Name:
small nuclear RNA activating complex, polypeptide 4
Synonyms:
5730436L13Rik

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
cataract Snapc4tm1a(KOMP)Wtsi HET   Early adult 7.29×10-05
abnormal humerus morphology Snapc4tm1a(KOMP)Wtsi HET Early adult 7.34×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue 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 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 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 100% (2 of 2)
Uterus 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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 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.

Legacy Phenotype Associated Images
Snapc4tm1a(KOMP)Wtsi
body, WT, Female, WTSI
Snapc4tm1a(KOMP)Wtsi
body, WT, Female, WTSI
Snapc4tm1a(KOMP)Wtsi
body, WT, Male, WTSI
Snapc4tm1a(KOMP)Wtsi
head, WT, Male, WTSI
Snapc4tm1a(KOMP)Wtsi
head, WT, Female, WTSI

View all 160 images

Snapc4tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Snapc4tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Snapc4tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Snapc4 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 Snapc4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 44
Developmental cataract OMIM:616509
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Trichomegaly
Cataract OMIM:190330
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract OMIM:274205
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1040
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Iv
Cataract OMIM:618881
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly OMIM:615995
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Cataract, Abnormal femur morphology, Lower limb undergrowth ORPHA:2310
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
X-Linked Retinoschisis
Cataract ORPHA:792
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Cataract 47
Microcornea, Cataract OMIM:612018
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna ORPHA:1447
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Cataract, Split foot, Hand monodactyly OMIM:183800
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Progressive cataract, Developmental cataract OMIM:246000
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Galactosemia Ii
Cataract OMIM:230200
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Abnormal hand morphology, Cataract, Small hand OMIM:300261
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Micromelia OMIM:273680
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Proximal Myotonic Myopathy
Cataract ORPHA:606
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened epiphysis, Irregular ... ORPHA:1856
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Short metacarpal, Cataract ORPHA:2489
Nathalie Syndrome
Cataract OMIM:255990
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Developmental cataract, Irre... OMIM:616716
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Congenital Varicella Syndrome
Cataract, Micromelia ORPHA:291
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... ORPHA:2557
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... ORPHA:166011
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Martsolf Syndrome 2
Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Camptodactyly OMIM:619420
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Small hand, Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Sh... ORPHA:85172
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... ORPHA:2831
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Genu valgum ORPHA:1381
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Retinitis Pigmentosa 40
Cataract OMIM:613801
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Cataract, Genu valgum, Astigmatism, Abnormal epiphysis morphology ORPHA:250984
Aniridia 3
Aniridia, Cataract OMIM:617142
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna ORPHA:2491
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Pellagra-Like Syndrome
Cataract OMIM:260650
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Arachnodactyly, Lens subluxation, Microphakia ORPHA:171844
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Bilateral talipes equinovarus, Short clavicles... OMIM:618022
Weill-Marchesani Syndrome
Short thumb, Brachydactyly, Cataract, Ectopia lentis ORPHA:3449
Rhizomelic Chondrodysplasia Punctata
Cataract, Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abno... ORPHA:177
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hyp... ORPHA:75508
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Bardet-Biedl Syndrome 9
Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydacty... OMIM:615986
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Bilateral talipes ... OMIM:609465
Achondrogenesis Type 2
Cataract, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short l... ORPHA:93296
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 48
Cataract OMIM:618415
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... ORPHA:2878
Pseudopseudohypoparathyroidism
Short metacarpal, Cataract, Short metatarsal, Brachydactyly OMIM:612463
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Kniest Dysplasia
Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification... OMIM:156550
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Cataract 24
Anterior polar cataract OMIM:601202
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Cataract, Short distal phalanx of finger OMIM:302950
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,... OMIM:618019
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Cataract, Rhizomelia, Epiphyseal stippling, Abnormal pelvic girdle bone morphology... OMIM:222765
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Hip d... OMIM:602471
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo... ORPHA:139471
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Cataract, Broad hallux phalanx, Toe syndactyly, Short ... ORPHA:959
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, S... OMIM:618150
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Autosomal Dominant Omodysplasia
Short humerus, Short 1st metacarpal, Rhizomelia, Short palm ORPHA:93328
Marshall Syndrome
Cataract, Radial bowing, Lens luxation, Hypoplastic ilia, Coxa valga, Ulnar bowing, Irregular fem... OMIM:154780
Atelosteogenesis, Type I
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... OMIM:108720
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Cataract, Radial deviation of the hand, Sandal gap, Short hum... OMIM:607323
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Cataract, Metaphyseal dysplasia, Pro... OMIM:600373
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ... OMIM:620076
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Omodysplasia 2
Short humerus, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shortening, Clinodac... OMIM:164745
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne... OMIM:601552
Cahmr Syndrome
Lamellar cataract OMIM:211770
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... ORPHA:420794
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Cataract, Bowed humerus, Tarsal synost... OMIM:272460
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... ORPHA:56305
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, 3-4 finger... OMIM:615877
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Talipes equinovarus, Epiphyseal stippling OMIM:118650
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... OMIM:607143
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb OMIM:314390
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Thin long bone diaphyses, Thin metacarpal cortices, Hip dislocation OMIM:616507
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... OMIM:181450
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ... OMIM:309350
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... OMIM:304120
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Cataract, Rhizomelic arm shortening, Brachydactyly ORPHA:508542
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short long bone, Brachydactyly OMIM:619479
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, Short metacarp... OMIM:210710
Paget Disease Of Bone 5, Juvenile-Onset
Short humerus, Bowing of the long bones, Lateral femoral bowing OMIM:239000
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Fibular hypoplasia, Hypoplastic distal hum... OMIM:258315
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Short toe, Genu valgum, Hyperphalangy of the 2nd fi... OMIM:616145
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Baller-Gerold Syndrome
Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Absent ... OMIM:218600
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Cataract, Corneal opacity, Short humerus, Aplasia of the ulna... OMIM:268300
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia of the radius, Abnormal fore... ORPHA:3404
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Genu valgum, Short clav... OMIM:304150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Polydactyly ORPHA:17
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Cataract, Short femur, Hypoplastic ilia, Long fingers, Slender long bone... OMIM:264090
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger OMIM:618367
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Cataract, Corneal opacity, Camptodactyly of finger, Short femur, Hypopla... ORPHA:3455
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Short humerus, Congenital hip dislocation, Calcaneal epiphyseal s... OMIM:117650

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 Snapc4

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 Snapc4.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Snapc4tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Snapc4tm1a(KOMP)Wtsi PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Snapc4tm34162(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Snapc4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Snapc4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Snapc4tm356030(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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