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 1.99×10-15
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 N/A heterozygote 100% (2 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)
Epididymis N/A heterozygote 50% (1 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
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 100% (2 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)
Midbrain N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 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)
Prostate gland N/A heterozygote 50% (1 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)
Spleen N/A heterozygote 50% (1 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)
Thymus N/A heterozygote 50% (1 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)
Vas deferens N/A heterozygote 50% (1 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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

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
Retinal dysplasia, Remnants of the hyaloid vascular system 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
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia OMIM:601612
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula ORPHA:93941
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Jung Syndrome
Tracheal stenosis ORPHA:2321
Keutel Syndrome
Tracheal atresia, Optic atrophy ORPHA:85202
Pendred Syndrome
Tracheal stenosis ORPHA:705
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Microphthalmia/Coloboma 12
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system OMIM:120200
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis OMIM:620183
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Tracheal stenosis, Septo-optic dysplasia ORPHA:3301
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis ORPHA:3348
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Optic disc coloboma ORPHA:1790
Hurler-Scheie Syndrome
Tracheal stenosis OMIM:607015
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Vacterl/Vater Association
Tracheal stenosis, Tracheoesophageal fistula ORPHA:887
Hydrolethalus
Tracheal atresia ORPHA:2189
Brachytelephalangic Chondrodysplasia Punctata
Tracheal stenosis, Optic nerve hypoplasia ORPHA:79345
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis OMIM:217980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis ORPHA:93352
Granulomatosis With Polyangiitis
Retinal hemorrhage, Tracheal stenosis OMIM:608710
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis OMIM:302960
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Tracheal stenosis ORPHA:2637
Cartilage-Hair Hypoplasia
Tracheal stenosis, Abnormality of retinal pigmentation ORPHA:175
Geleophysic Dysplasia 3
Tracheal stenosis OMIM:617809
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Igg4-Related Thyroid Disease
Tracheal stenosis ORPHA:64744
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Craniofacioskeletal Syndrome
Tracheal stenosis OMIM:300712
Smith-Lemli-Opitz Syndrome
Optic atrophy, Tracheal stenosis ORPHA:818
Geleophysic Dysplasia 1
Laryngotracheal stenosis, Tracheal stenosis OMIM:231050
Atelis Syndrome 2
Remnants of the hyaloid vascular system OMIM:620185
Larsen Syndrome
Tracheal stenosis OMIM:150250
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis ORPHA:163979
Frontometaphyseal Dysplasia 2
Tracheal stenosis OMIM:617137
Fraser Syndrome 3
Tracheal atresia OMIM:617667
Pierson Syndrome
Retinal hemorrhage, Retinal detachment, Remnants of the hyaloid vascular system OMIM:609049
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Fraser Syndrome
Tracheal stenosis ORPHA:2052
Hydrolethalus Syndrome 1
Tracheal stenosis OMIM:236680
Neuroocular Syndrome 1
Remnants of the hyaloid vascular system OMIM:619539
Norrie Disease
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:649
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Tracheal stenosis, Retinal coloboma ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tracheal stenosis, Retinal coloboma ORPHA:261537
Mowat-Wilson Syndrome
Tracheal stenosis, Retinal coloboma ORPHA:2152
Holoprosencephaly 2
Remnants of the hyaloid vascular system OMIM:157170
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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