Gene Summary

Name:
complement component 1, r subcomponent-like
Synonyms:
C1rl1,  C1r-LP

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 tibia morphology C1rltm1b(EUCOMM)Hmgu HOM Early adult 1.06×10-05
decreased lean body mass C1rltm1b(EUCOMM)Hmgu HOM Early adult 7.49×10-05
abnormal pelvic girdle bone morphology C1rltm1b(EUCOMM)Hmgu HOM   Early adult 5.41×10-05
abnormal joint morphology C1rltm1b(EUCOMM)Hmgu HOM Early adult 6.34×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex 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 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary 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)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.31% (6 of 457)
ear 0.22% (1 of 445)
embryo 0.44% (2 of 457)
eye 0.22% (1 of 461)
footplate 0.22% (1 of 462)
forebrain 0.22% (1 of 452)
forelimb 0.22% (1 of 459)
handplate 0.21% (1 of 468)
head 1.09% (5 of 460)
heart 0.22% (1 of 462)
hindbrain 0.87% (4 of 459)
hindlimb 0.22% (1 of 452)
liver 0.22% (1 of 449)
lung 0.22% (1 of 451)
mandibular process 0.22% (1 of 459)
maxillary process 0.22% (1 of 452)
midbrain 0.22% (1 of 464)
oral cavity 0.22% (1 of 465)
skin 0.22% (1 of 454)
tail 0.22% (1 of 460)
tail somite group 0.22% (1 of 455)

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 Whole Body Dorso Ventral

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by C1rl 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 C1rl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Upington Disease
Premature epimetaphyseal fusion, Flat capital femoral epiphysis, Arthralgia of the hip, Broad fem... ORPHA:3408
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... ORPHA:1509
Blount Disease
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Talipes equinovarus, Hip dysplasia, Genu valgum, Coxa valga, Acetabular dysplasia OMIM:613618
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Osteoarthritis, Shallow acetabu... OMIM:142669
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal hip bone morphology ORPHA:1891
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Coxa valga, Hip dysplasia, Arthritis OMIM:615612
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... ORPHA:1146
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Hammertoe, Hip dislocation, Hip dysplasia, Knee dislocation ORPHA:370943
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Broad femoral neck, Short femoral... OMIM:609324
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ab... ORPHA:166002
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Genu varum, Short lower limbs, Abnormal epiphysis morphology, Progressive ... ORPHA:2501
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... ORPHA:1802
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Auriculoosteodysplasia
Dislocated radial head, Hip dysplasia OMIM:109000
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Obesity ORPHA:2206
Epiphyseal Dysplasia, Multiple, 6
Flat capital femoral epiphysis, Flat distal femoral epiphysis, Osteoarthritis, Irregular epiphyse... OMIM:614135
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Finger joint hypermobility, Osteoarthritis, Avascular... ORPHA:93308
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Abnormality of the ankles, Cuboidal metacarpal, Elbow dislocation, Abnormally shap... ORPHA:968
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Hypochondroplasia
Abnormality of femur morphology, Short toe, Osteoarthritis, Brachydactyly, Genu varum, Micromelia... ORPHA:429
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal ossification involving the ... ORPHA:2114
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... ORPHA:93316
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Wormian bones OMIM:138930
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal metacarpal morphology, Mesomelia,... ORPHA:2631
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... ORPHA:93430
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... OMIM:249700
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Genu valgum, Cubitus valgus, Short foot, Madelung deformity, ... ORPHA:314795
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Abnormal metacarpal morphology, Abnormal pelvic gi... ORPHA:2370
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Truncal obesity, Ulnar deviation of finger, A... ORPHA:2928
Thoracomelic Dysplasia
Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow dislocation, Abnormal pelv... ORPHA:1803
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Mesomelia, Delayed closure of the anterior fontanelle, Hip d... OMIM:605274
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pe... OMIM:184252
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula morphology, Abno... ORPHA:1837
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormality of femur morphology, Hip dislocation, Micromelia ORPHA:1508
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Synostosis of... ORPHA:2098
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of the ankles, Wormian bones, Tape... ORPHA:970
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Metaphyseal Chondrodysplasia, Kaitila Type
Enlarged joints, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Sh... OMIM:250230
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Weismann-Netter Syndrome
Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared iliac bones OMIM:112350
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Femoral bowing, Fibular... OMIM:600785
Acromesomelic Dysplasia 2B
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... OMIM:228900
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Antecubital pterygium, Metaphyseal wide... ORPHA:2502
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Delayed proximal femoral epiphyseal ossification,... ORPHA:93311
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Jeune Syndrome
Cone-shaped epiphysis, Brachydactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot poly... ORPHA:474
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Tombstone-shaped proximal ph... OMIM:108721
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Abnormality of the ankles, Abnormal femoral head morphology, Hypoplasia of th... ORPHA:239
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... OMIM:600081
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Epiphyseal dysplasia, Tibial bowing, Abnormal iliac wing morphology, Osteoarthri... ORPHA:1427
Satoyoshi Syndrome
Abnormality of femur morphology, Abnormal hip bone morphology, Abnormality of the humerus, Genu v... ORPHA:3130
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... OMIM:184253
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Grant Syndrome
Joint dislocation, Abnormality of the glenoid fossa, Wormian bones, Bowing of the long bones, Abn... ORPHA:2097
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Distal symphalangis... OMIM:210720
Kniest Dysplasia
Enlarged joints, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Flared metaphysis, Ge... OMIM:156550
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Hand oligodactyly, Radioulnar synostosis, Ap... ORPHA:1788
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Limb undergrowth, Abnormal metacarpal morphology, Tarsal synosto... ORPHA:3429
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... OMIM:241530
Hydrocephalus With Associated Malformations
Lower limb undergrowth, Tibial bowing, Short lower limbs OMIM:236640
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... OMIM:211350
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short femur, Radioulnar synostos... ORPHA:1988
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, Metaphyseal irregularity, Cone-shaped epiphyses of the phalange... OMIM:250220
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fem... OMIM:300554
Atelosteogenesis Type Iii
Talipes equinovarus, Absent humerus, Knee dislocation, Distal tapering femur, Short tibia, Abnorm... ORPHA:56305
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarp... OMIM:108720
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Absent thumb, Bilateral talipes equinovarus, Hypoplastic pelvis, Hypoplastic sca... OMIM:618022
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Small for gestational age, Wormian bones, Limb undergrowth, Broad long bones, Crum... OMIM:166210
Congenital Insensitivity To Pain With Severe Intellectual Disability
Tibial bowing, Small for gestational age, Congenital bilateral hip dislocation, Limb undergrowth,... ORPHA:453510
Multiple Osteochondromas
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Limi... ORPHA:321
Chondrodysplasia-Disorder Of Sex Development Syndrome
Micromelia, Short phalanx of finger, Abnormal shoulder morphology, Abnormal pelvic girdle bone mo... ORPHA:1422
Tibial Hemimelia
Absent tibia OMIM:275220
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Elbow dislocation, Clinodactyly of the 5th... ORPHA:1106
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphal... OMIM:601559
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia ORPHA:85165
Codas Syndrome
Congenital hip dislocation, Brachydactyly, Abnormal epiphysis morphology, Abnormal pelvic girdle ... ORPHA:1458
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormality of fibula morphology, Bowing of the long bones, Lower l... ORPHA:3035
Dent Disease 1
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fem... OMIM:300009
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Failure to thrive,... ORPHA:289157
Cleidocranial Dysplasia
Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly... ORPHA:1452
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Finger syndactyly, Split foot, Abnormal metacarp... ORPHA:1112
Campomelic Dysplasia
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Hypoplastic... ORPHA:140
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhizomelia, Sma... OMIM:143095
Cartilage-Hair Hypoplasia
Failure to thrive, Tibial bowing, Metaphyseal dysplasia, Metaphyseal chondrodysplasia, Abnormal h... ORPHA:175
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Metaphyseal irregularity, Tibial bowing, Coxa vara, Corner fractu... ORPHA:93315
Melnick-Needles Syndrome
Short distal phalanx of finger, Failure to thrive, Cone-shaped epiphyses of the phalanges of the ... OMIM:309350
Harrod Syndrome
Arachnodactyly, Failure to thrive, Abnormal shoulder morphology, Abnormal pelvic girdle bone morp... ORPHA:2115
Aredyld Syndrome
Abnormal pelvic girdle bone morphology, Cachexia, Brachydactyly ORPHA:1133
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Abnormality of fibula morphology, Abnormality of ... ORPHA:352540
Camurati-Engelmann Disease
Slender build, Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of lon... ORPHA:1328
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Femoral retroversion, Femoral bowing, Wormian bones, Slender long b... OMIM:610915
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Abnormal iliac wing morphology, Talipes equinovarus, Abno... ORPHA:3027
Campomelic Dysplasia
Femoral bowing, Short 1st metacarpal, Bowing of the long bones, Anterior tibial bowing, Short lon... OMIM:114290
Autosomal Recessive Hypophosphatemic Rickets
Coxa vara, Tibial bowing, Distal femoral bowing, Craniosynostosis, Genu varum, Polyarticular arth... ORPHA:289176
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Failure to thrive, Synostosis of carpal bones, Micromelia, Abnorm... ORPHA:289
Intellectual Disability, Buenos-Aires Type
Abnormal pelvic girdle bone morphology, Clinodactyly of the 5th finger ORPHA:3079

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 C1rl

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 C1rl.

No publications found that use IMPC mice or data for C1rl.

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MGI Allele Allele Type Produced
C1rltm43729(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
C1rltm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
C1rltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
C1rltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
C1rltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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