Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
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
increased lean body mass Ascc3tm1a(EUCOMM)Hmgu HET Early adult 3.82×10-05
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
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis ORPHA:2768
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, Metaphyseal irregularity, Cone-shaped epiphyses of the phalange... OMIM:250220
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad metacarpals, Bowing of the legs, Broad phalanx, Short metacarpal, Flared iliac wing, Triang... OMIM:271665
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Iliac crest serration, Rhizomelic arm shortening, Long fibula, Short palm,... ORPHA:93317
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response, Flexion contracture OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Multiple joint contractures, Optic disc pallor, Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Hip dislocation, Exaggerated startle response, Inguinal hernia, Umbilical hernia OMIM:149400
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Flared metaphysis, Irregular epiphyses, Short femoral neck, Carpal bone... OMIM:610442
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Talipes equinovarus, Exaggerated startle response, Flexion cont... OMIM:617301
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula, Inguinal hernia ORPHA:935
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Exaggerated startle response, Hyperextensibility of the finger joints, Long fi... ORPHA:521426
Gm1 Gangliosidosis Type 1
Broad metacarpals, Flattened femoral head, Exaggerated startle response, Flared iliac wing, Cherr... ORPHA:79255
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response OMIM:618598
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response, Postaxial polydactyly, Long fingers, Optic atrop... OMIM:617527
Asparagine Synthetase Deficiency
Failure to thrive, Large hands, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Retinal detachment, Optic atrophy, Retinal dys... OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Cherry red spot of the macula, Optic atrophy, T... ORPHA:845
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Sandhoff Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Clinodactyly of the 5th finger, Exaggerated startle response, Short 5th finger, Tapered finger, S... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Exaggerated startle response, Optic disc pallor, Hip dysplasia, Dystonia 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.

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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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