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Gene: Cgnl1 MGI:1915428

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Gene Summary

Name:
cingulin-like 1
Synonyms:
4933421H10Rik,  Jacop,  9930020M10Rik

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IMPC Data Collections

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
enlarged epididymis Cgnl1em1(IMPC)Mbp HOM Early adult 0.00
abnormal epididymis morphology Cgnl1em1(IMPC)Mbp HOM Early adult 0.00
increased blood urea nitrogen level Cgnl1em1(IMPC)Mbp HOM   Early adult 1.08×10-05
abnormal eye morphology Cgnl1em1(IMPC)Mbp HOM Early adult 0.00
hyperalgesia Cgnl1em1(IMPC)Mbp HOM   Early adult 6.08×10-05 *
abnormal sensory capabilities/reflexes/nociception Cgnl1em1(IMPC)Mbp HOM   Early adult 0.000343 *

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes
* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Cgnl1 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 Cgnl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... OMIM:617872
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... OMIM:154230
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Increased blood urea nitrogen ORPHA:90321
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Renal Cysts And Diabetes Syndrome
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... OMIM:137920
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Trigeminal Neuralgia
Allodynia ORPHA:221091
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating thymidine concentration, Elevated circulating deoxyuridine concentration, Al... OMIM:603041
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Benign Schwannoma
Allodynia ORPHA:252164

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 Cgnl1

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 Cgnl1.

No publications found that use IMPC mice or data for Cgnl1.

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MGI Allele Allele Type Produced
Cgnl1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Cgnl1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cgnl1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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