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 vitreous body morphology C1ratm1.1(KOMP)Vlcg HOM Early adult 6.07×10-15
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 50% (1 of 2)
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 0.0% (0 of 2)
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 100% (2 of 2)
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 587)
aorta 0.17% (1 of 592)
blood 0.0%
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cecum 5.8% (22 of 379)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
chest bone Unavailable
colon 15.83% (22 of 139)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.72% (1 of 138)
heart 0.34% (2 of 588)
hindlimb 0.0%
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
ileum 13.97% (19 of 136)
jejunum 8.63% (12 of 139)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 319)
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
tongue 3.65% (5 of 137)
trachea 0.51% (3 of 591)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vagina 0.0%
vas deferens 4.64% (18 of 388)
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 Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

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
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Tracheal Agenesis
Tracheal atresia ORPHA:3346
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia OMIM:601612
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Tracheal stenosis ORPHA:93941
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc coloboma OMIM:120200
Jung Syndrome
Tracheal stenosis ORPHA:2321
Pendred Syndrome
Tracheal stenosis ORPHA:705
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Keutel Syndrome
Optic atrophy, Tracheal atresia ORPHA:85202
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Hyaloid vascu... ORPHA:91495
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Tracheal stenosis, Septo-optic dysplasia ORPHA:3301
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Optic disc coloboma ORPHA:1790
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis ORPHA:3348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysp... OMIM:614643
Hurler-Scheie Syndrome
Tracheal stenosis OMIM:607015
Vacterl/Vater Association
Tracheoesophageal fistula, Tracheal stenosis ORPHA:887
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Tracheal stenosis ORPHA:79345
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis OMIM:217980
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis OMIM:302960
Granulomatosis With Polyangiitis
Tracheal stenosis, Retinal hemorrhage OMIM:608710
Fraser Syndrome 3
Tracheal atresia OMIM:617667
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Tracheal stenosis ORPHA:2637
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis ORPHA:93352
Geleophysic Dysplasia 3
Tracheal stenosis OMIM:617809
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Tracheal stenosis ORPHA:175
Igg4-Related Thyroid Disease
Tracheal stenosis ORPHA:64744
Pierson Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Retinal hemorrhage OMIM:609049
Craniofacioskeletal Syndrome
Tracheal stenosis OMIM:300712
Larsen Syndrome
Tracheal stenosis OMIM:150250
Smith-Lemli-Opitz Syndrome
Optic atrophy, Tracheal stenosis ORPHA:818
Geleophysic Dysplasia 1
Tracheal stenosis OMIM:231050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis ORPHA:163979
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Frontometaphyseal Dysplasia 2
Tracheal stenosis OMIM:617137
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment OMIM:300166
Norrie Disease
Optic atrophy, Remnants of the hyaloid vascular system, Retinal detachment ORPHA:649
Neuroocular Syndrome
Remnants of the hyaloid vascular system OMIM:619539
Fraser Syndrome
Tracheal stenosis ORPHA:2052
Hydrolethalus Syndrome 1
Tracheal stenosis OMIM:236680
Holoprosencephaly 2
Remnants of the hyaloid vascular system OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Tracheal stenosis, Retinal coloboma ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Retinal coloboma, Tracheal stenosis ORPHA:261537
Mowat-Wilson Syndrome
Retinal coloboma, Tracheal stenosis 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, ES Cells

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