Gene Summary

Name:
leucine rich repeat containing 8 family, member C
Synonyms:
E430036I04Rik

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 eye morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
small testis Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Lrrc8cem1(IMPC)Mbp HOM Early adult 0.00

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.

Histopathology

Images

123 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Lrrc8c 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 Lrrc8c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcinoma, Hypogonadotr... OMIM:235200
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Amenorrhea, Hepatocellular car... ORPHA:465508
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... ORPHA:325124
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mell... OMIM:222300
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273

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 Lrrc8c

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 Lrrc8c.

No publications found that use IMPC mice or data for Lrrc8c.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Lrrc8cem1(IMPC)Mbp Exon Deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter