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Gene: Sox8 MGI:98370

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SRY (sex determining region Y)-box 8
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Sox8 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 Sox8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... OMIM:619867
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 65
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619712
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 56
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619515
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... OMIM:301059
Spermatogenic Failure 58
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spermatogenic Failure 54
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... OMIM:619379
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 39
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618643
Spermatogenic Failure 7
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 79
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility OMIM:620196
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... OMIM:619177
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Ring Chromosome Y Syndrome
Ambiguous genitalia, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism,... ORPHA:261529
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... OMIM:618433
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Arthrogryposis, Distal, Type 11
Camptodactyly, Limited pronation/supination of forearm, Calcaneovalgus deformity, Rocker bottom f... OMIM:620019
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Diethylstilbestrol Syndrome
Decreased fertility in females, Cryptorchidism, Premature ovarian insufficiency, Micropenis, Smal... ORPHA:1916
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... OMIM:616950
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... OMIM:614840
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Osebold-Remondini Syndrome
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia... OMIM:112910
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia ORPHA:48
Vertical Talus, Congenital
Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot OMIM:192950
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... ORPHA:52901
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
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
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Cryptorchidism, Abnormal morphology of... ORPHA:754
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... OMIM:146110
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... ORPHA:320391
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... ORPHA:753
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp... ORPHA:752
Tarsal-Carpal Coalition Syndrome
Short finger, Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, ... OMIM:186570
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Dec... OMIM:308700
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... ORPHA:251510
Spermatogenic Failure, X-Linked, 4
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:301077
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... ORPHA:99429
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Decreased circulating follicle... OMIM:308750
Smith-Mccort Dysplasia 2
Broad metatarsal, Limited elbow extension, Flattened epiphysis, Short metatarsal, Flat acetabular... OMIM:615222
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Congenital Vertical Talus
Achilles tendon contracture, Rocker bottom foot, Equinus calcaneus, Distal arthrogryposis ORPHA:178382
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Arthrogryposis, Distal, Type 1A
Camptodactyly, Congenital hip dislocation, Calcaneovalgus deformity, Overlapping toe, Absent dist... OMIM:108120
Proximal Symphalangism
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... ORPHA:3250
Solitary Bone Cyst
Lytic defects of the radius, Abnormal ilium morphology, Abnormal humeral diaphysis morphology, Pr... ORPHA:83468
Brachydactyly, Type B2
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... OMIM:611377
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Male infertility, Short sperm flagella OMIM:620197
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... ORPHA:8
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Disproportionate short-trunk short stature, Reduced sperm motility, Short stature OMIM:602271
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Leydig Cell Hypoplasia
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Otopalatodigital Syndrome, Type I
Short distal phalanx of finger, Hip dislocation, Abnormality of the fifth metatarsal bone, Latera... OMIM:311300
Premature Ovarian Failure 10
Hypoplasia of the ovary, Decreased testicular size, Premature ovarian insufficiency, Primary amen... OMIM:612885
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
46,Xy Sex Reversal 1
Male pseudohermaphroditism, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male,... OMIM:400044
Aromatase Deficiency
Cryptorchidism, Eunuchoid habitus, Primary amenorrhea, Obesity, Hypergonadotropic hypogonadism, F... ORPHA:91
Fatco Syndrome
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... ORPHA:2492
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... ORPHA:2639
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Camptodactyly of finger, Absent phalangeal crease, Distal arthrogry... OMIM:601680
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Hypogonadism, Growth delay OMIM:618165
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Reduced sperm motility, Short stature, Abnormal central microtubular pair morphol... OMIM:612650
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,... ORPHA:79239
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms OMIM:614874
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Short stature, Abnormal central microtubular pair morphology of respirato... OMIM:612649
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia... ORPHA:2756
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
46,Xy Ovotesticular Difference Of Sex Development
Perineal hypospadias, Fused labia minora, Micropenis, Ambiguous genitalia, Gonadoblastoma, Epispa... ORPHA:325345
Acrootoocular Syndrome
Short finger, Grayish enamel, Small for gestational age, Small thenar eminence, Decreased palmar ... ORPHA:2980
Symphalangism, Proximal, 1A
Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, Metacarpophala... OMIM:185800
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Neuropathy, Congenital, With Arthrogryposis Multiplex
Calcaneovalgus deformity, Arthrogryposis multiplex congenita OMIM:162370
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
Three M Syndrome 3
Small for gestational age, Hip dysplasia, Slender long bone, Prominent calcaneus, Decreased body ... OMIM:614205
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Dyggve-Melchior-Clausen Disease
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... OMIM:223800
Lead Poisoning
Abnormal sperm morphology, Delayed puberty, Small for gestational age, Reduced sperm motility, De... ORPHA:330015
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay OMIM:613987
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... ORPHA:457395
Tarsal Coalition
Tarsal synostosis OMIM:186850
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypogonadotropic hypogo... ORPHA:465508
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Short palm, Abnormality of the calcaneus, Hypoplastic iliac wing, S... ORPHA:163966
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Enthesitis, Finger... ORPHA:85438
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Camptodactyly, Inguinal hernia, Calcaneovalgus deformity, Umbilical hernia, Knee flexion contract... OMIM:616266
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... OMIM:305400
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Tarsal synostosis, Radial bowing OMIM:156232
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Calcaneovalgus deformity, Atrophic scars, Inguinal hernia OMIM:225320
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased testicular size, Premature ovarian insufficiency, Micropenis, Hypogona... ORPHA:3464
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligosper... ORPHA:85450
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Congenital hip dislocation, Calcaneovalgus deformity, Rocker bottom fo... ORPHA:3078
Wolfram Syndrome 1
Testicular atrophy, Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Growth delay OMIM:222300
Weaver Syndrome
Inguinal hernia, Calcaneovalgus deformity, Broad thumb, Single transverse palmar crease, Large ha... OMIM:277590
Carney Complex
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... ORPHA:1359
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Atretic vas ... OMIM:137920
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Fanconi Anemia, Complementation Group A
Small for gestational age, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Male in... OMIM:227650
Three M Syndrome 2
Small for gestational age, Slender long bone, Scapular winging, Prominent calcaneus, Short 5th fi... OMIM:612921
46,Xx Sex Reversal 2
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... OMIM:278850
Silver-Russell Syndrome
Abnormal appendicular skeleton morphology, Obesity, Failure to thrive in infancy, Cachexia, Abnor... ORPHA:813
X-Linked Intellectual Disability, Hedera Type
Calcaneovalgus deformity, Hyporeflexia of upper limbs, Obesity ORPHA:93952
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Larsen-Like Syndrome
Clinodactyly of the 5th finger, Radial deviation of the 4th finger, Bipartite calcaneus, Talipes ... OMIM:608545
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Diphallia
Rectoperineal fistula, Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Bifid ... ORPHA:227
Classical-Like Ehlers-Danlos Syndrome Type 2
Inguinal hernia, Hip dislocation, Hallux valgus, Ventral hernia, Umbilical hernia, Widened atroph... ORPHA:536532
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Arthrogryposis, Distal, Type 5D
Camptodactyly, Congenital hip dislocation, Calcaneovalgus deformity, Adducted thumb, Limited elbo... OMIM:615065
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty... ORPHA:93322
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/hypo... ORPHA:40366
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Paraganglioma, Papillary cystadenoma of the epididymi... OMIM:193300
Cardiac-Valvular Ehlers-Danlos Syndrome
Absent phalangeal crease, Inguinal hernia, Hallux valgus, Calcaneovalgus deformity, Recurrent sho... ORPHA:230851
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Bilateral talipes equinovarus, Abnormal hip bone morphology, Slender finger, Broad thumb, Promine... ORPHA:251028
Ataxia-Telangiectasia
Hypoplasia of the thymus, Delayed puberty, Diabetes mellitus, Short stature, Failure to thrive, F... OMIM:208900
Bloom Syndrome
Premature ovarian insufficiency, Small for gestational age, Severe postnatal growth retardation, ... ORPHA:125
Chromosome 2P16.1-P15 Deletion Syndrome
Camptodactyly, Calcaneovalgus deformity, Metatarsus adductus, Arachnodactyly, Joint contracture o... OMIM:612513
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Reduced sperm motility, Pancreatic cysts ORPHA:730
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Epiphyseal stippling, Interphalangeal joint contracture of finger, Single transverse... ORPHA:96334
Larsen Syndrome
Elbow dislocation, Hip dislocation, Spatulate thumbs, Multiple carpal ossification centers, Short... OMIM:150250
Combined Oxidative Phosphorylation Defect Type 39
Prominent calcaneus, Congenital foot contractures ORPHA:565624
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm of the pancreas, P... ORPHA:892
Mitochondrial Trifunctional Protein Deficiency
Equinus calcaneus, Failure to thrive in infancy ORPHA:746
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Short stature, Hypospadias ORPHA:3063
Kid Syndrome
Coxa valga, Knee flexion contracture, Patellar hypoplasia, Failure to thrive, Palmoplantar kerato... ORPHA:477
Noonan Syndrome 1
Cryptorchidism, Hypogonadism, Failure to thrive in infancy, Short stature, Male infertility, Post... OMIM:163950
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Calcaneovalgus deformity, Abnormality of the palmar creases, Long fingers, Tapered finger ORPHA:521445
Floating-Harbor Syndrome
Cryptorchidism, Short stature, Varicocele, Glandular hypospadias, Epididymal cyst, Hypospadias OMIM:136140
Floating-Harbor Syndrome
Small for gestational age, Cryptorchidism, Short stature, Varicocele, Epididymal cyst, Growth del... ORPHA:2044
Cystinosis, Nephropathic
Delayed puberty, Diabetes mellitus, Failure to thrive in infancy, Short stature, Growth delay, Ma... OMIM:219800
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, 2-3 toe syndactyly, Progressive flexion contractures, Bilateral talipes equino... ORPHA:522077
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... ORPHA:273
Marfan Syndrome
Limited elbow extension, Camptodactyly, Incisional hernia, Arachnodactyly, Reduced subcutaneous a... OMIM:154700
Neu-Laxova Syndrome 1
Camptodactyly, Yellow subcutaneous tissue covered by thin, scaly skin, Calcaneovalgus deformity, ... OMIM:256520
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Slender build, Calcaneovalgus deformity, Prominent fingertip pads, Ara... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Slender build, Calcaneovalgus deformity, Prominent fingertip pads, Ara... ORPHA:363958
Cystic Fibrosis
Male infertility, Failure to thrive OMIM:219700
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Camptodactyly, Hallux valgus, Calcaneovalgus deformity, Ulnar deviation of the hand, Syndactyly, ... ORPHA:261537
Mowat-Wilson Syndrome
Camptodactyly, Hallux valgus, Calcaneovalgus deformity, Ulnar deviation of the hand, Syndactyly, ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Camptodactyly, Hallux valgus, Calcaneovalgus deformity, Ulnar deviation of the hand, Syndactyly, ... ORPHA:261552

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 Sox8

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 Sox8.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation. Proceedings of the National Academy of Sciences of the United States of America (February 2021) Sox8tm1a(EUCOMM)Wtsi PMC7923381

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
Sox8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sox8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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