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Gene: Rundc1 MGI:2144506

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Gene Summary

Name:
RUN domain containing 1
Synonyms:
N/A

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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
preweaning lethality, complete penetrance Rundc1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating HDL cholesterol level Rundc1tm1a(EUCOMM)Wtsi HET Early adult 4.81×10-05
preweaning lethality, incomplete penetrance Rundc1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 100% (4 of 4)
Aorta N/A heterozygote 75% (3 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 100% (4 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 100% (4 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 100% (4 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 100% (4 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 100% (4 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 100% (4 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 100% (4 of 4)
Prostate gland N/A heterozygote 25% (1 of 4)
Skeletal muscle tissue N/A heterozygote 50% (2 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 100% (4 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 100% (4 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 25% (1 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 Dorso Ventral Orientation

29 Images

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X-ray

XRay Images Forepaw

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

27 Images

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X-ray

XRay Images Skull Lateral Orientation

27 Images

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Anti-nuclear antibody assay

Images

6 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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Eye Morphology

Images Ophthalmoscopy

5 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Rundc1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Rundc1tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Rundc1tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Rundc1tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Rundc1tm1a(EUCOMM)Wtsi
HET, Female, WTSI

View all 239 images

Rundc1tm1a(EUCOMM)Wtsi
left eye, abnormal retinal pigmentation, HET, Female, WTSI
Rundc1tm1b(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Rundc1tm1b(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Rundc1tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, right eye, HET, Female, WTSI
Rundc1tm1a(EUCOMM)Wtsi
corneal opacity, HET, Female, WTSI

View all 8 images

Rundc1tm1a(EUCOMM)Wtsi
TS20 eye, HET, Unsexed, WTSI
Rundc1tm1a(EUCOMM)Wtsi
TS20 heart, TS20 heart ventricle, HET, Unsexed, WTSI
Rundc1tm1b(EUCOMM)Wtsi
TS20 eye, HET, Male, WTSI
Rundc1tm1a(EUCOMM)Wtsi
TS20 liver, HET, Unsexed, WTSI
Rundc1tm1b(EUCOMM)Wtsi
TS20 forebrain, HET, Male, WTSI

View all 7 images

Rundc1tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Rundc1tm1b(EUCOMM)Wtsi
HOM, Female, WTSI

Human diseases caused by Rundc1 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 Rundc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:96180
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400

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 Rundc1

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 Rundc1.

There are 6 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) Rundc1tm1a(EUCOMM)Wtsi Rundc1tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Rundc1tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rundc1tm1a(EUCOMM)Wtsi Rundc1tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Rundc1tm1a(EUCOMM)Wtsi Rundc1tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Rundc1tm1b(EUCOMM)Wtsi PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome open research (January 2016) Rundc1tm1b(EUCOMM)Wtsi PMC5159622

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
Rundc1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Rundc1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rundc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rundc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rundc1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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