Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
calponin 1
Synonyms:
CnnI,  calponin h1,  CN

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cnn1 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 Cnn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... ORPHA:174
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Ollier Disease
Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m... ORPHA:296
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys... ORPHA:93284
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo... OMIM:608728
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Limitation of joint mobility,... OMIM:156550
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Multiple Osteochondromas
Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo... ORPHA:321
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Osteogenesis Imperfecta, Type Viii
Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Recurrent fractures, Tibial bowing,... OMIM:610915
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morphology, Mesomelic/r... ORPHA:2347
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Dumbbell-shaped femur, Abnormality of the e... ORPHA:485
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Dumbbell-shaped long bone... ORPHA:3144
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat... ORPHA:86822
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem... OMIM:258315
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis, Abnormal cartilage morphology ORPHA:2396

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 Cnn1

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 Cnn1.

No publications found that use IMPC mice or data for Cnn1.

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MGI Allele Allele Type Produced
Cnn1tm78471(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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