Gene Summary

Name:
complement component 1, r subcomponent A
Synonyms:
mC1rA

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
abnormal trachea morphology C1ratm1.1(KOMP)Vlcg HOM Early adult 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  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 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.

Adult LacZ

LacZ Images Section

32 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by C1ra 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 C1ra by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Periodontal Ehlers-Danlos Syndrome
ORPHA:75392
Ehlers-Danlos Syndrome, Periodontal Type, 1
OMIM:130080

The table below shows human diseases predicted to be associated to C1ra by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia ORPHA:3346
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Pneumonia, Atelectasis, Abnormal tracheobronchial morpho... ORPHA:3348
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Tracheal atresia OMIM:601612
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Laryngomalacia ORPHA:93941
Jung Syndrome
Tracheal stenosis, Depressed nasal bridge, Recurrent respiratory infections, Wide nasal bridge ORPHA:2321
Keutel Syndrome
Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Recu... ORPHA:85202
Geleophysic Dysplasia 3
Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Tracheal stenosis, Anteverted na... OMIM:617809
Hurler-Scheie Syndrome
Tracheal stenosis, Recurrent respiratory infections, Depressed nasal bridge OMIM:607015
Granulomatosis With Polyangiitis
Pleuritis, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportion, Diff... OMIM:608710
Pendred Syndrome
Tracheal stenosis ORPHA:705
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Chops Syndrome
Tracheal stenosis, Aspiration pneumonia, Short nose, Laryngomalacia OMIM:616368
Fraser Syndrome 3
Tracheal atresia, Wide nose, Abnormal lung lobation OMIM:617667
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia, Tracheal stenosis, A... OMIM:217980
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the larynx, Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Aplasia/Hypoplasia... ORPHA:3301
Hypomandibular Faciocranial Dysostosis
Short nose, Laryngeal hypoplasia, Abnormal tracheobronchial morphology, Tracheal stenosis, Anteve... ORPHA:1790
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Wide nasal bridge, Laryngomalacia, Tracheal stenosis, Recurrent respir... ORPHA:2637
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Short nose, Laryngeal calcification, Tracheal stenosis, Pulmonary artery ... ORPHA:79345
Vacterl/Vater Association
Tracheal stenosis, Aplasia/Hypoplasia of the lungs, Tracheoesophageal fistula, Laryngomalacia ORPHA:887
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Laryngeal stenosis, Abnormal bronchus morphology ORPHA:93352
Hydrolethalus
Tracheal atresia, Laryngomalacia ORPHA:2189
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal calcification, Tracheal stenosis OMIM:302960
Larsen Syndrome
Tracheal stenosis, Bronchomalacia, Tracheomalacia, Depressed nasal bridge OMIM:150250
Cartilage-Hair Hypoplasia
Tracheal stenosis, Anteverted nares, Wide nasal bridge, Depressed nasal bridge ORPHA:175
Craniofacioskeletal Syndrome
Hypoplastic frontal sinuses, Choanal atresia, Tracheal stenosis OMIM:300712
Geleophysic Dysplasia 1
Anteverted nares, Short nose, Tracheal stenosis OMIM:231050
Frontometaphyseal Dysplasia 2
Broad nasal tip, Wide nasal bridge, Depressed nasal bridge, Tracheal stenosis, Subglottic stenosis OMIM:617137
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Choanal atresia, Underdeveloped nasal alae, Tracheal stenosis ORPHA:163979
Smith-Lemli-Opitz Syndrome
Abnormality of the larynx, Choanal atresia, Wide nasal bridge, Pulmonary hypoplasia, Tracheal ste... ORPHA:818
Fraser Syndrome
Midline nasal groove, Underdeveloped nasal alae, Subglottic stenosis, Laryngeal stenosis, Wide na... ORPHA:2052
Hydrolethalus Syndrome 1
Laryngeal hypoplasia, Midline defect of the nose, Tracheal stenosis, Bifid nose, Abnormal lung lo... OMIM:236680
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormality of the pulmonary artery, Pulmonary artery sling, Tracheal stenosis, Wide nasal bridge ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormality of the pulmonary artery, Pulmonary artery sling, Tracheal stenosis, Wide nasal bridge ORPHA:261552
Mowat-Wilson Syndrome
Pulmonary artery sling, Tracheal stenosis, Wide nasal bridge ORPHA:2152
Ehlers-Danlos Syndrome, Periodontal Type, 1
OMIM:130080
Periodontal Ehlers-Danlos Syndrome
ORPHA:75392

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 C1ra

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 C1ra.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Complement C1r serine protease contributes to kidney fibrosis. American journal of physiology. Renal physiology (September 2019) C1ratm1.1(KOMP)Vlcg 31509012

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MGI Allele Allele Type Produced
C1ratm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
C1ratm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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