Gene Summary

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

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
decreased bone mineral content Arpc1aem1(IMPC)J HET Early adult 6.00×10-06
preweaning lethality, complete penetrance Arpc1aem1(IMPC)J HOM   Early adult 0.00
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

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 Embryo E9.5

Images

4 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

X-ray

XRay Images Forepaw

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

Gross Morphology Placenta E9.5

Images

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

4 Images

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
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density 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
Branchial anomaly, Webbed neck 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
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Holoprosencephaly
Short neck, Spinal dysraphism, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Encephalocele ORPHA:2162
Bor Syndrome
Branchial cyst ORPHA:107
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Cystic hygroma, Increased nuchal translucency ORPHA:453499
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Cystic hygroma, Increased nuchal translucency ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Cystic hygroma, Increased nuchal translucency ORPHA:352665
Oligomeganephronia
Branchial cyst ORPHA:2260
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Low posterior hairline, Hydrocephalus ORPHA:261337
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Limitation of nec... ORPHA:268810
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula ORPHA:261330
Alg3-Cdg
Neural tube defect ORPHA:79321
Branchiooculofacial Syndrome
Branchial anomaly, Short neck, Low posterior hairline OMIM:113620
Craniofacial Microsomia
Occipital encephalocele, Branchial anomaly, Hydrocephalus OMIM:164210
8Q24.3 Microdeletion Syndrome
Branchial cyst, Spina bifida occulta, Short neck ORPHA:508488
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia, Short neck, Delayed eruption of teeth ORPHA:798
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93925

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.

Order Mouse and ES Cells

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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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