Gene Summary

Name:
SRY (sex determining region Y)-box 30
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased fasting circulating glucose level Sox30tm1b(KOMP)Wtsi HOM Early adult 3.26×10-05
persistence of hyaloid vascular system Sox30tm1b(KOMP)Wtsi HOM Early adult 4.39×10-08
abnormal retina inner nuclear layer morphology Sox30tm1b(KOMP)Wtsi HOM Early adult 7.24×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 577)
aorta 0.17% (1 of 582)
bone 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.71% (21 of 368)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 581)
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.35% (2 of 574)
oral epithelium 0.0%
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
striatum 0.52% (3 of 578)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
trachea 0.52% (3 of 579)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vas deferens 4.68% (18 of 385)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Skull Lateral Orientation

8 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Forepaw

8 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Sox30 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 Sox30 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
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 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
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
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
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
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hemochromatosis, Type 2A
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia OMIM:602390
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism ORPHA:393
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... ORPHA:231736
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... ORPHA:261519
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... ORPHA:8
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
48,Xyyy Syndrome
Azoospermia, Male hypogonadism, Primary gonadal insufficiency ORPHA:99329
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Ciliary Dyskinesia, Primary, 40
Azoospermia, Patent ductus arteriosus, Absent outer dynein arms, Infertility OMIM:618300
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... ORPHA:280679
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Infertility, Diabetes insipidus ORPHA:1445
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning, Hyperglycemia OMIM:618970
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... OMIM:300845
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... ORPHA:752
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... ORPHA:10
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration, Hyperglycemia OMIM:520000
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Infertility, Impotence, Decreased serum testosterone co... ORPHA:2232
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... ORPHA:300298
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n... ORPHA:361
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... ORPHA:96263
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... ORPHA:251066
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... ORPHA:96264
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty ORPHA:90646
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
H Syndrome
Amenorrhea, Micropenis, Decreased testicular size, Hypogonadism, Delayed puberty, Azoospermia, Di... ORPHA:168569
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Optic nerve ... OMIM:120200
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... ORPHA:91351
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigm... OMIM:615986
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Bloom Syndrome
Azoospermia, Cryptorchidism, Type II diabetes mellitus, Decreased fertility in females OMIM:210900
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Hypergonadotropic hypogonadism... OMIM:602782
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Retinopathy, Glycosuria, Neo... ORPHA:552
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Bloom Syndrome
Oligospermia, Male infertility, Diabetes mellitus, Azoospermia, Premature ovarian insufficiency ORPHA:125
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure ORPHA:85450
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Maturi... OMIM:137920
Fanconi Anemia
Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertility in males, Hy... ORPHA:84
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Hyaloid vascular remnant and retrolental mass, Glial rem... ORPHA:91495
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased... ORPHA:3464
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Paragangliom... OMIM:193300
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... OMIM:604367
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Retinal fold, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Diphallia
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Ectopic scrotum, ... ORPHA:227
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysp... OMIM:614643
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Delayed puberty ORPHA:2072
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hyperaldosteronism, Delayed puberty, Azoospe... ORPHA:534
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Paraganglioma, Elevated circul... ORPHA:892
Pierson Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Retinal hemorrhage, Posterior lentic... OMIM:609049
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidi... OMIM:136140
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidism,... ORPHA:2044
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Abnormality of the optic nerve, Epiretinal membrane, Ret... ORPHA:637
Noonan Syndrome 1
Hypospadias, Male infertility, Patent ductus arteriosus, Hypogonadism, Cryptorchidism OMIM:163950
Cystinosis, Nephropathic
Male infertility, Delayed puberty, Male hypogonadism, Primary hypothyroidism, Diabetes mellitus OMIM:219800
Norrie Disease
Remnants of the hyaloid vascular system, Abnormal retinal vascular morphology, Retinal detachment... ORPHA:649
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Cyclopia, Iris coloboma, Chorioretinal coloboma OMIM:157170
Cystic Fibrosis
Male infertility OMIM:219700
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Lens coloboma, Hypoplasia of the fovea OMIM:619539

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 Sox30

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 Sox30.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Single-cell RNA-seq uncovers dynamic processes and critical regulators in mouse spermatogenesis. Cell research (July 2018) Sox30tm1a(KOMP)Wtsi PMC6123400
SOX30 is required for male fertility in mice. Scientific reports (December 2017) Sox30tm1c(KOMP)Wtsi Sox30tm1a(KOMP)Wtsi PMC5732304

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MGI Allele Allele Type Produced
Sox30tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sox30tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sox30tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sox30tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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