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Gene: Arrdc5 MGI:1924170

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Gene Summary

Name:
arrestin domain containing 5
Synonyms:
1700013E09Rik

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
increased mean corpuscular hemoglobin Arrdc5tm1b(EUCOMM)Wtsi HOM Early adult 7.31×10-05
increased circulating fructosamine level Arrdc5tm1b(EUCOMM)Wtsi HOM Early adult 3.62×10-05
abnormal retina morphology Arrdc5tm1b(EUCOMM)Wtsi HOM Early adult 5.28×10-05
male infertility Arrdc5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating alkaline phosphatase level Arrdc5tm1b(EUCOMM)Wtsi HOM Early adult 8.61×10-09

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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.

X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Anti-nuclear antibody assay

Images

5 Images

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Eye Morphology

Images Ophthalmoscopy

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Arrdc5tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Arrdc5tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Arrdc5tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Arrdc5tm1b(EUCOMM)Wtsi
HOM, Female, WTSI
Arrdc5tm1b(EUCOMM)Wtsi
HOM, Female, WTSI

View all 45 images

Arrdc5tm1b(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Arrdc5tm1b(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Arrdc5tm1b(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Arrdc5tm1b(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Arrdc5tm1b(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI

View all 16 images

Arrdc5tm1b(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HOM, Female, WTSI
Arrdc5tm1b(EUCOMM)Wtsi
head, HOM, Female, WTSI

Human diseases caused by Arrdc5 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 Arrdc5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
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
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... ORPHA:423479
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Microcytic anemia ORPHA:98791
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Crypt... OMIM:617052
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Tetrasomy 9P
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria ORPHA:3310
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Optic atrophy, Abnormal hemoglobin, Anemia ORPHA:847
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Cystinosis, Nephropathic
Hyponatremia, Male infertility, Splenomegaly, Retinal pigment epithelial mottling, Reduced blood ... OMIM:219800
Cystic Fibrosis
Male infertility OMIM:219700
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men... ORPHA:64

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 Arrdc5

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 Arrdc5.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Arrdc5tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Arrdc5tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arrdc5tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Arrdc5tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Arrdc5tm1b(EUCOMM)Wtsi PMC5827107

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
Arrdc5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Arrdc5tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Arrdc5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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