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Gene: Cpsf3 MGI:1859328

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Gene Summary

Name:
cleavage and polyadenylation specificity factor 3
Synonyms:
73 kDa

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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
prenatal lethality prior to heart atrial septation Cpsf3tm1a(EUCOMM)Wtsi HOM   E15.5 0.00
prenatal lethality prior to heart atrial septation Cpsf3tm1b(EUCOMM)Wtsi HOM   E15.5 0.00
preweaning lethality, complete penetrance Cpsf3tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
preweaning lethality, incomplete penetrance Cpsf3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
embryonic lethality prior to organogenesis Cpsf3tm1b(EUCOMM)Wtsi 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

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (2 of 4)
Aorta N/A heterozygote 25% (1 of 4)
Blood vessel N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote 100% (4 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A heterozygote 100% (4 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 25% (1 of 4)
Heart N/A heterozygote 100% (4 of 4)
Hippocampus N/A heterozygote 100% (4 of 4)
Hypothalamus N/A heterozygote 100% (4 of 4)
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 100% (4 of 4)
Lung N/A heterozygote 50% (2 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 50% (2 of 4)
Olfactory lobe N/A heterozygote 100% (4 of 4)
Ovary N/A heterozygote 50% (2 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 100% (4 of 4)
Parathyroid gland N/A heterozygote 100% (4 of 4)
Peripheral nervous system N/A heterozygote 50% (2 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 75% (3 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 25% (1 of 4)
Striatum N/A heterozygote 100% (4 of 4)
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

27 Images

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X-ray

XRay Images Forepaw

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Cpsf3tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Cpsf3tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Cpsf3tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Cpsf3tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Cpsf3tm1a(EUCOMM)Wtsi
HET, Male, WTSI

View all 138 images

Cpsf3tm1a(EUCOMM)Wtsi
TS20 maxillary process, HET, Unsexed, WTSI
Cpsf3tm1a(EUCOMM)Wtsi
TS20 hindlimb, HET, Unsexed, WTSI
Cpsf3tm1a(EUCOMM)Wtsi
TS20 oral cavity, HET, Unsexed, WTSI
Cpsf3tm1a(EUCOMM)Wtsi
TS20 rib pre-cartilage condensation, HET, Unsexed, WTSI
Cpsf3tm1b(EUCOMM)Wtsi
TS20 tail, TS20 tail somite group, HET, Male, WTSI

View all 13 images

Cpsf3tm1a(EUCOMM)Wtsi
right eye, abnormal retinal pigmentation, HET, Male, WTSI
Cpsf3tm1b(EUCOMM)Wtsi
Fused cornea and lens, HET, Female, WTSI

Human diseases caused by Cpsf3 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.

The table below shows human diseases associated to Cpsf3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
OMIM:619876

The table below shows human diseases predicted to be associated to Cpsf3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
OMIM:619876

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 Cpsf3

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 Cpsf3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cpsf3tm1a(EUCOMM)Wtsi Cpsf3tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Cpsf3tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cpsf3tm1a(EUCOMM)Wtsi Cpsf3tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cpsf3tm1a(EUCOMM)Wtsi Cpsf3tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cpsf3tm1a(EUCOMM)Wtsi Cpsf3tm1b(EUCOMM)Wtsi Cpsf3ltm2b(EUCOMM)Wtsi PMC5827107

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
Cpsf3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cpsf3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cpsf3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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