banner
Genes Phenotypes Help, News, Blog

Gene: Lrrc56 MGI:1917802

Log in to follow

Gene Summary

Name:
leucine rich repeat containing 56
Synonyms:
5730427C23Rik

Order Alleles

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
abnormal lung morphology Lrrc56em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Lrrc56em1(IMPC)Tcp HOM Early adult 5.49×10-05
enlarged lymph nodes Lrrc56em1(IMPC)Tcp HOM Early adult 0.00
increased circulating alanine transaminase level Lrrc56em1(IMPC)Tcp HOM Early adult 1.02×10-09
abnormal heartbeat Lrrc56em1(IMPC)Tcp HOM Early adult 1.14×10-06
abnormal heart position or orientation Lrrc56em1(IMPC)Tcp HOM Early adult 0.00
male infertility Lrrc56em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Lrrc56em1(IMPC)Tcp 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.

Eye Morphology

Images Ophthalmoscopy

100 Images

View images
Eye Morphology

Images Slit Lamp

48 Images

View images
Gross Pathology and Tissue Collection

Images

16 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Histopathology

Images

7 Images

View images
Electrocardiogram (ECG)

Waveform Image

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Human diseases caused by Lrrc56 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 Lrrc56 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Atelectasis, Atrial situs ambiguous, Abnormal heart ... ORPHA:244

The table below shows human diseases predicted to be associated to Lrrc56 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Recurrent pneumonia, Microcephalic sperm head, Recurre... OMIM:301101
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis... OMIM:615482
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Situs inversus totalis, Recurrent sinusitis, Reduced progressive s... OMIM:620438
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia, Male infertility OMIM:618948
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ma... OMIM:300991
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia OMIM:606217
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Ciliary Dyskinesia, Primary, 50
Chronic bronchitis, Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motil... OMIM:620356
Right Atrial Isomerism
Common atrium, Total anomalous pulmonary venous return, Polysplenia, Abnormal lung lobation, Tetr... OMIM:208530
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Dextrocardia, Reduced sperm moti... OMIM:615444
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Scimitar Syndrome
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Heart block, Hyp... ORPHA:185
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Ciliary Dyskinesia, Primary, 38
Infertility, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Immotile sperm, Red... OMIM:613807
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Ciliary Dyskinesia, Primary, 37
Female infertility, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:617577
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Atelectasis, Atrial situs ambiguous, Abnormal heart ... ORPHA:244
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Polysplenia, Atrioventricular canal defec... OMIM:613751
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent sinusitis, Short sperm flagella, Recurrent respiratory infectio... OMIM:620197
Heterotaxy, Visceral, 7, Autosomal
Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Polysplenia,... OMIM:616749
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Infertility, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Male infertility OMIM:612444
Dextrocardia
Abnormal lung lobation, Abnormal heart morphology, Abnormality of the spleen, Abnormal EKG, Situs... ORPHA:1666
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Decreased fertil... OMIM:615067
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent respiratory i... OMIM:106700
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Immotile sperm, Male infertility OMIM:614874
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:614935
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:619607
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Male infertility OMIM:618801
Heterotaxy, Visceral, 2, Autosomal
Left atrial isomerism, Polysplenia, Atrioventricular canal defect, Situs inversus totalis, Mesoca... OMIM:605376
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Hypouricemia, Recurrent upper respiratory tract infections, Cerebral vasculitis, Lymph... OMIM:613179
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Recurrent sinusitis, Immotile sperm, Bronchiectasis, Male infertility OMIM:617091
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Lymph node hypoplasia, Splenomegaly, Apl... OMIM:602450
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Situs inversus totalis, Hypokalemia, Dextrocardia,... OMIM:613095
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia ORPHA:2863
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Congenital alveolar dysplasia, Sci... OMIM:608978
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Bronchiectasis, M... OMIM:244400
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... OMIM:618280
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hypogonadism, Congestive heart failu... ORPHA:85450
Agammaglobulinemia, X-Linked
Cor pulmonale, Recurrent pneumonia, Lymph node hypoplasia, Recurrent sinusitis, Bronchiolitis obl... OMIM:300755
Poland Syndrome
Dextrocardia OMIM:173800
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Bardet-Biedl Syndrome 17
Hypogonadism, Situs inversus totalis, Dextrocardia OMIM:615994
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Absent tonsils, Lymph node hypoplasia ORPHA:276
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Common atrium, Double inlet right ventricle, Dextrotransposition of the g... OMIM:619702
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Pulmonary hypop... OMIM:314390
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular ... ORPHA:99776
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia OMIM:618929
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility ORPHA:2239
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Proximal 16P11.2 Microdeletion Syndrome
Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia ORPHA:261197
Johanson-Blizzard Syndrome
Hypoproteinemia, Abnormal cardiac septum morphology, Dextrocardia ORPHA:2315
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Atrial septal defect, De... OMIM:277380
Ellis Van Creveld Syndrome
Emphysema, Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis... ORPHA:289
Czeizel-Losonci Syndrome
Dextrocardia, Pulmonary hypoplasia ORPHA:2437
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Hyperbilirubinemia, Ventricular septal defect, Dextroca... OMIM:619534
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Ventricular septal defect, Abnormal cardiac septum morpholo... OMIM:614294
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextroca... OMIM:264480
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia OMIM:613686
Distal Duplication 5Q
Dextrocardia, Ventricular septal defect ORPHA:96097
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Dextrocardia ORPHA:96092
Joubert Syndrome With Ocular Defect
Dextrocardia ORPHA:220493
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Decreased fertility, Decreased circulating renin level... ORPHA:90793
Thoracoabdominal Syndrome
Transposition of the great arteries, Ectopia cordis, Pulmonary hypoplasia OMIM:313850
Tetrasomy 9P
Pulmonary hypoplasia, Abnormal mitral valve morphology, Patent foramen ovale, Pulmonary arterial ... ORPHA:3310
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Constricting Bands, Congenital
Ectopia cordis, Abnormal lung lobation OMIM:217100
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Arterial rupture, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, ... ORPHA:536545
Marden-Walker Syndrome
Abnormal anatomic location of the heart, Situs inversus totalis, Dextrocardia, Ventricular septal... ORPHA:2461
Knobloch Syndrome
Lymphangioma, Dextrocardia ORPHA:1571
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... OMIM:620305
Cystic Fibrosis
Cor pulmonale, Recurrent pneumonia, Hepatosplenomegaly, Recurrent bronchopulmonary infections, Br... OMIM:219700
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Carpenter Syndrome 2
Tricuspid regurgitation, Situs inversus totalis, Transposition of the great arteries, Atrial sept... OMIM:614976
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Restrictive Dermopathy
Transposition of the great arteries, Atrial septal defect, Dextrocardia, Pulmonary hypoplasia ORPHA:1662
Limb Body Wall Complex
Abnormal heart morphology, Atrial septal defect, Ectopia cordis, Ventricular septal defect ORPHA:2369
Poland Syndrome
Atrial septal defect, Dextrocardia ORPHA:2911
Floating-Harbor Syndrome
Tetralogy of Fallot, Mesocardia, Atrial septal defect ORPHA:2044
Floating-Harbor Syndrome
Mesocardia, Atrial septal defect OMIM:136140

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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological entity term germ cell defect Lrrc56em1(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term hypospermia Lrrc56em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Lrrc56em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Lrrc56em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term hypospermia Lrrc56em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological entity term hydrocephalus Lrrc56em1(IMPC)Tcp HOM Early adult

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 Lrrc56.

No publications found that use IMPC mice or data for Lrrc56.

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
Lrrc56em1(IMPC)Tcp Exon Deletion Mice
Lrrc56tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lrrc56tm42331(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lrrc56tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter