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 2.13×10-05
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
decreased body length Arpc1aem1(IMPC)J HET Early adult 7.56×10-07
preweaning lethality, complete penetrance Arpc1aem1(IMPC)J HOM   Early adult 0.00
abnormal neural tube closure Arpc1aem1(IMPC)J HOM E9.5 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 Placenta E9.5

Images

2 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Gross Morphology Embryo E9.5

Images

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
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Lambert Syndrome
Branchial anomaly ORPHA:1296
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly ORPHA:1131
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Bor Syndrome
Branchial cyst ORPHA:107
Holoprosencephaly
Branchial anomaly, Holoprosencephaly, Spinal dysraphism, Short neck, Hydrocephalus ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Branchial anomaly ORPHA:453499
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Limitation of neck motion, Lipomyelomenin... ORPHA:268810
Hemifacial Microsomia
Hydrocephalus, Branchial anomaly OMIM:164210
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Branchial anomaly ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Branchial anomaly ORPHA:352665
Oligomeganephronia
Branchial cyst ORPHA:2260
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Hydrocephalus ORPHA:1908
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Low posterior hairline, Branchial fistula, Hydrocephalus ORPHA:261337
Treacher-Collins Syndrome
Branchial fistula ORPHA:861
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula ORPHA:261330
Iniencephaly
Cystic hygroma, Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele... ORPHA:63259
Branchiooculofacial Syndrome
Short neck, Low posterior hairline, Branchial anomaly OMIM:113620
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
8Q24.3 Microdeletion Syndrome
Short neck, Spina bifida occulta, Branchial cyst ORPHA:508488
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short neck, Umbilical hernia, Neural tube defect ORPHA:798
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
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect 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.

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MGI Allele Allele Type Produced
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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