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Gene: Arpc1a MGI:1928896

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Gene Summary

Name:
actin related protein 2/3 complex, subunit 1A
Synonyms:
Sid32,  1110030K07Rik,  0610010H08Rik

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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
abnormal neural tube closure Arpc1aem1(IMPC)J HOM E9.5 0.00
abnormal pharyngeal arch morphology Arpc1aem1(IMPC)J HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Arpc1aem1(IMPC)J HOM   E12.5 0.00
preweaning lethality, complete penetrance Arpc1aem1(IMPC)J HOM   Early adult 0.00
decreased bone mineral content Arpc1aem1(IMPC)J HET Early adult 6.30×10-06

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.

Gross Morphology Placenta E9.5

Images

2 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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X-ray

XRay Images Forepaw

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

4 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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Gross Morphology Embryo E9.5

Images

4 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Human diseases caused by Arpc1a 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 Arpc1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Lambert Syndrome
Branchial anomaly ORPHA:1296
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly ORPHA:1131
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Bor Syndrome
Branchial cyst ORPHA:107
Holoprosencephaly
Spinal dysraphism, Encephalocele, Branchial anomaly, Hydrocephalus, Holoprosencephaly, Short neck ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Branchial anomaly, Cystic hygroma ORPHA:453499
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Limitation of neck motion,... ORPHA:268810
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Branchial anomaly, Cystic hygroma ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Branchial anomaly, Cystic hygroma ORPHA:352665
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Oligomeganephronia
Branchial cyst ORPHA:2260
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula ORPHA:261330
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Hydrocephalus, Branchial fistula, Low posterior hairline ORPHA:261337
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Alg3-Cdg
Neural tube defect ORPHA:79321
8Q24.3 Microdeletion Syndrome
Branchial cyst, Spina bifida occulta, Short neck ORPHA:508488
Branchiooculofacial Syndrome
Short neck, Branchial anomaly, Low posterior hairline OMIM:113620
Witteveen-Kolk Syndrome
Branchial fistula OMIM:613406
Craniofacial Microsomia
Occipital encephalocele, Hydrocephalus, Branchial anomaly OMIM:164210
Schinzel-Giedion Syndrome
Short neck, Delayed eruption of teeth, Umbilical hernia, Neural tube defect ORPHA:798
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386

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 Arpc1a

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 Arpc1a.

No publications found that use IMPC mice or data for Arpc1a.

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MGI Allele Allele Type Produced
Arpc1atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Arpc1atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Arpc1aem1(IMPC)J Exon Deletion Mice

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