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Gene: Iqcb1 MGI:2443764

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Gene Summary

Name:
IQ calmodulin-binding motif containing 1
Synonyms:
6820449I09Rik,  NPHP5

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased cornea thickness Iqcb1em1(IMPC)Bay HET Early adult 1.30×10-09
increased heart left ventricle size Iqcb1em1(IMPC)Bay HET Early adult 6.41×10-07
decreased total body fat amount Iqcb1em1(IMPC)Bay HET Early adult 3.35×10-06
thick ventricular wall Iqcb1em1(IMPC)Bay HET Early adult 9.19×10-07
preweaning lethality, incomplete penetrance Iqcb1em1(IMPC)Bay HOM   Early adult 0.00
increased lean body mass Iqcb1em1(IMPC)Bay HET Early adult 1.69×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Forepaw

8 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

9 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Human diseases caused by Iqcb1 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 Iqcb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Senior-Loken Syndrome
Cataract ORPHA:3156
Senior-Loken Syndrome 5
OMIM:609254

The table below shows human diseases predicted to be associated to Iqcb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Brittle Cornea Syndrome 2
Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocorn... OMIM:614170
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Brittle Cornea Syndrome 1
Keratoglobus, Keratoconus, Decreased corneal thickness, Atypical scarring of skin, Dentinogenesis... OMIM:229200
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia, Keratoconus, Corneal dystrophy, Corneal guttata, Ectopia pupillae OMIM:609141
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Corneal scarring, ... ORPHA:90354
Vernal Keratoconjunctivitis
Scarring, Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punc... ORPHA:70476
Dermatitis, Atopic
Cataract, Keratoconus, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Leber Congenital Amaurosis 1
Cataract, Keratoconus OMIM:204000
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Keratoconus, Omphalocele, Camptodactyly of toe, Abnormal heart morphology, Umbil... OMIM:175700
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus, Congenital finger flexion contractures, Distal arthrogryp... OMIM:108145
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Microtriplication 11Q24.1
Keratoconus, Obesity ORPHA:289522
Costello Syndrome
Keratoconus, Abnormal dental enamel morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... ORPHA:3071
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Contracture of the proximal interphalangeal joint of the 5th finger ORPHA:293967
Leber Congenital Amaurosis 9
Keratoconus, Macular scar OMIM:608553
Alagille Syndrome
Keratoconus, Corneal dystrophy, Failure to thrive, Atrial septal defect, Ventricular septal defec... ORPHA:52
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Patent foramen ovale ORPHA:542306
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Astigmatism, Inguinal hernia, Keratoconus, Ventricular hypertrop... OMIM:208050
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Conjunctivitis, Keratoconus OMIM:242150
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Warburg-Cinotti Syndrome
Corneal neovascularization, Ankle flexion contracture, Limbal stem cell deficiency, Decreased cor... OMIM:618175
Arterial Tortuosity Syndrome
Myocarditis, Inguinal hernia, Keratoglobus, Keratoconus, Hypertrophic cardiomyopathy, Femoral her... ORPHA:3342
Down Syndrome
Atrioventricular canal defect, Keratoconus, Obesity, Secundum atrial septal defect, Tetralogy of ... ORPHA:870
Nail-Patella Syndrome
Microphakia, Keratoconus, Microcornea, Antecubital pterygium, Cataract, Lester's sign OMIM:161200
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Corneal neovascularization, Corneal ulceration, Limbal stem cell defi... ORPHA:2363
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Obesity, Astigmatism ORPHA:72
Retinitis Pigmentosa
Keratoconus, Obesity, Posterior subcapsular cataract ORPHA:791
Gapo Syndrome
Keratoconus, Umbilical hernia ORPHA:2067
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea, Umbilical hernia OMIM:230740
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea, Inguinal hernia OMIM:225400
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Keratoconus, Genital hernia, Mitral valve prolapse, Umbilical hernia, Cystocele,... ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Inguinal hernia, Keratoconus, Cigarette-paper scars, Uterine prolapse, Mitral valve prolapse, Cys... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Abnormal heart valve morphology, Keratoconus, Cigarette-paper scars, Uterine pro... ORPHA:286
Senior-Loken Syndrome
Cataract ORPHA:3156
Senior-Loken Syndrome 5
OMIM:609254

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 Iqcb1

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 Iqcb1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease. Genes (November 2021) Iqcb1em1(IMPC)Bay PMC8623546
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Iqcb1tm1a(EUCOMM)Hmgu 32290105
Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype. Molecular vision (December 2018) Iqcb1tm1a(EUCOMM)Hmgu PMC6334983
Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (June 2016) Iqcb1tm1a(EUCOMM)Hmgu PMC5789158
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. Human molecular genetics (March 2016) Iqcb1tm1a(EUCOMM)Hmgu PMC5062589

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Iqcb1tm43457(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Iqcb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Iqcb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Iqcb1em1(IMPC)Bay Exon Deletion Mice

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