Gene Summary

Name:
activating signal cointegrator 1 complex subunit 3
Synonyms:
Helic1,  B630009I04Rik,  ASC1p200

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 retina morphology Ascc3tm1a(EUCOMM)Hmgu HET Early adult 3.54×10-05
preweaning lethality, complete penetrance Ascc3tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased lean body mass Ascc3tm1a(EUCOMM)Hmgu HET Early adult 3.82×10-05
increased startle reflex Ascc3tm1a(EUCOMM)Hmgu HET   Early adult 5.49×10-06
long tibia Ascc3tm1a(EUCOMM)Hmgu HET Early adult 9.73×10-08
preweaning lethality, complete penetrance Ascc3em1(IMPC)Bay HOM   Early adult 0.00
increased total body fat amount Ascc3tm1a(EUCOMM)Hmgu HET Early adult 4.43×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Ascc3 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 Ascc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal... ORPHA:93356
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Short finger, Rhizomelia, Cone-shaped epiphyses of the phalanges of... OMIM:250220
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Retinal atrophy, Femoral bowing, Tibial bowing, Short long bone, Sh... OMIM:608940
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response OMIM:618201
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Exaggerated startle response, Flexion contracture, Optic disc pallor OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Multiple joint contractures, Exaggerated startle response, Optic disc pallor ORPHA:320406
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short finger, Hip subluxation, Flared metaphysis, Epiphyseal stippling, Triangular shaped distal ... OMIM:271665
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Metaphyseal chond... ORPHA:93317
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Elbow flexion contracture, Exaggerated startle response, Hand clenching, Hip contr... OMIM:617301
Hyperekplexia 1
Inguinal hernia, Umbilical hernia, Exaggerated startle response, Hip dislocation OMIM:149400
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Failure to thrive, Joint contracture, Exaggerated startle response OMIM:616881
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Inguinal hernia, Long fibula ORPHA:935
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... OMIM:610442
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Dystonia, Cherry red spot of the macula, Exaggerated startle response ORPHA:309246
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial hand polyda... ORPHA:521426
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Short long bone, Broad metacarpals, Flared iliac wing, Exaggerated sta... ORPHA:79255
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Optic nerve hypoplasia, Joint contracture, Exaggerated startle response OMIM:617864
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Rocker bottom foot, Exaggerated startle response, Postaxial polydactyly, Failure t... OMIM:617527
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Clinodactyly of the 5th finger, Exaggerated startle response OMIM:618056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response, Flexion contr... OMIM:253800
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Limb joint contracture, Exaggerated startle response OMIM:620327
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Optic atrophy, Tremor, Exaggerated startle response, Dystonia, Cherry red spot of the macula, Lar... ORPHA:845
Asparagine Synthetase Deficiency
Optic nerve hypoplasia, Tremor, Exaggerated startle response, Failure to thrive, Large hands OMIM:615574
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Exaggerated startle response OMIM:617281
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:268800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Exaggerated startle response OMIM:620451
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger, Exaggerated startle response OMIM:618367
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short finger, Clinodactyly of the 5th finger, Broad toe, Short foot, Exaggerated startle response... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Uterine prolapse, Dystonia, Hip dysplasia, Optic disc pallor ORPHA:438213

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 Ascc3

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 Ascc3.

No publications found that use IMPC mice or data for Ascc3.

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
Ascc3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ascc3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ascc3em1(IMPC)Bay Exon Deletion Mice

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