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Gene: Iqcb1 MGI:2443764

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Gene Summary

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

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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 heart left ventricle size Iqcb1em1(IMPC)Bay HET Early adult 3.63×10-07
increased cornea thickness Iqcb1em1(IMPC)Bay HET Early adult 3.11×10-15
thick ventricular wall Iqcb1em1(IMPC)Bay HET Early adult 9.19×10-07
decreased total body fat amount Iqcb1em1(IMPC)Bay HET Early adult 3.01×10-06
increased lean body mass Iqcb1em1(IMPC)Bay HET Early adult 1.51×10-05
decreased thigmotaxis Iqcb1em1(IMPC)Bay HET Early adult 4.09×10-05
preweaning lethality, incomplete penetrance Iqcb1em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

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MicroCT E18.5

Embryo reconstruction

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Eye Morphology

VIP of right eye

16 Images

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X-ray

XRay Images Forepaw

8 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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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Skull Dorso Ventral 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
Keratoconus, Cataract 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
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Brittle Cornea Syndrome 2
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thicknes... OMIM:614170
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Brittle Cornea Syndrome 1
Keratoconus, Mitral valve prolapse, Atypical scarring of skin, Keratoglobus, Abnormal cornea morp... OMIM:229200
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Eye poking OMIM:204100
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Corneal scarring, Mitral valve prolapse, Keratoglobus, Hernia... ORPHA:90354
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Eye poking OMIM:204000
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Eye poking OMIM:613835
Retinitis Pigmentosa
Atypical scarring of skin, Keratoconus, Cataract, Obesity ORPHA:791
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Distal arthrogryposis, Astigmatism, Congenital finger flexion contract... OMIM:108145
Microtriplication 11Q24.1
Keratoconus, Obesity, Bruxism ORPHA:289522
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Leber Congenital Amaurosis 9
Keratoconus, Eye poking, Macular scar OMIM:608553
Costello Syndrome
Keratoconus, Ventricular septal defect, Abnormal dental enamel morphology, Failure to thrive in i... ORPHA:3071
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive... ORPHA:401777
Angelman Syndrome
Keratoconus, Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavi... ORPHA:72
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Decreased corneal thickness ORPHA:293967
Alagille Syndrome
Keratoconus, Ventricular septal defect, Corneal dystrophy, Abnormal pupil morphology, Atrial sept... ORPHA:52
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Patent foramen ovale ORPHA:542306
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Keratoconus, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus he... OMIM:208050
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Failure to thrive, Conjunctivitis OMIM:242150
Arterial Tortuosity Syndrome
Keratoconus, Inguinal hernia, Femoral hernia, Hiatus hernia, Myocarditis, Dilated cardiomyopathy,... ORPHA:3342
Warburg-Cinotti Syndrome
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Decreased corneal thickness, ... OMIM:618175
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Abnormal dental enamel morphology, Keratoconjunctivitis, Keratoconju... ORPHA:2363
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Gapo Syndrome
Keratoconus, Umbilical hernia ORPHA:2067
Gapo Syndrome
Keratoconus, Umbilical hernia, Megalocornea, Shallow anterior chamber OMIM:230740
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Cataract, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressiv... ORPHA:353281
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Inguinal hernia, Keratoconus OMIM:225400
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Inguinal hernia, Genital hernia, Cystocele, Depression, Atypical scarring of skin, K... ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Inguinal hernia, Cigarette-paper scars, Cystocele, Mitral valve prolapse, Uterine pr... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Keratoconus, Inguinal hernia, Abnormal heart valve morphology, Abnormal pupil morphology, Cigaret... 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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