Gene Summary

Name:
spermatogenesis associated 6
Synonyms:
1700062C23Rik,  KRP,  Hash

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
male infertility Spata6tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased pulmonary ventilation Spata6tm1b(KOMP)Wtsi HOM Early adult 1.46×10-05
short tibia Spata6tm1b(KOMP)Wtsi HOM Early adult 3.72×10-05

Download data as:  TSV  XLS

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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
Adrenal gland  Wholemount images heterozygote 25% (1 of 4)
Aorta  Wholemount images heterozygote 50% (2 of 4)
Brain  Wholemount images heterozygote 50% (2 of 4)
Cecum  Section images heterozygote 75% (3 of 4)
Cerebellum  Wholemount images heterozygote 25% (1 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Section images heterozygote 75% (3 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 25% (1 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Kidney  Wholemount images  Section images heterozygote 75% (3 of 4)
Lung  Wholemount images heterozygote 50% (2 of 4)
Midbrain  Wholemount images heterozygote 50% (2 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote 25% (1 of 4)
Parathyroid gland  Wholemount images heterozygote 50% (2 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Pituitary gland  Wholemount images heterozygote 50% (2 of 4)
Spinal cord  Wholemount images heterozygote 50% (2 of 4)
Stomach  Wholemount images  Section images heterozygote 75% (3 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote 50% (2 of 4)
Trachea  Wholemount images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images heterozygote 50% (2 of 4)
Uterus  Wholemount images heterozygote 25% (1 of 4)
Vas deferens  Wholemount images  Section images heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 50% (2 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 50% (2 of 4)
Jejunum N/A heterozygote 50% (2 of 4)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
blood 0.0%
bone marrow 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 3.37% (11 of 326)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
chest bone Unavailable
colon 10% (11 of 110)
diaphragm 0.0%
duodenum 1.87% (2 of 107)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 510)
hindlimb 0.0%
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
ileum 11.3% (13 of 115)
jejunum 3.81% (4 of 105)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
stomach pyloric region 0.0%
striatum 0.39% (2 of 510)
sublingual gland 0.0%
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
tongue 4.72% (5 of 106)
trachea 0.59% (3 of 510)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.48% (12 of 345)
vascular system 0.0%
vesicular gland 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 Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

30 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Section

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Spata6 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 Spata6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
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 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 4
Azoospermia OMIM:270960
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility OMIM:615703
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Abnormality of tibia morphology OMIM:188800
Young Syndrome
Azoospermia OMIM:279000
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... ORPHA:320391
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614897
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, Hyp... OMIM:229070
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Increased laxity of ankles, Shor... ORPHA:93323
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
47,Xyy Syndrome
Varicocele, Azoospermia, Micropenis, Cryptorchidism, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Oligospermia, Precocious puberty OMIM:300200
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:602668
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:612885
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Infertility, Decreased female libido, Amenorrhea, Panhypopituitarism,... ORPHA:91348
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Orofaciodigital Syndrome Viii
Syndactyly, Recurrent aspiration pneumonia, Short tibia, Polydactyly OMIM:300484
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefaction, Absent pat... OMIM:601559
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Tibial Hemimelia
Absent tibia OMIM:275220
Fatco Syndrome
Finger syndactyly, Abnormality of fibula morphology, Absent hand, Abnormality of tibia morphology... ORPHA:2492
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility OMIM:618300
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal labi... ORPHA:251510
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Laryngotracheomalacia, Epiphyseal stippling ... ORPHA:56305
Generalized Glucocorticoid Resistance Syndrome
Infertility, Adrenal hyperplasia, Oligospermia, Precocious puberty, Female pseudohermaphroditism,... ORPHA:786
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
48,Xyyy Syndrome
Azoospermia, Male hypogonadism ORPHA:99329
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Ciliary Dyskinesia, Primary, 9
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchiectasis, Ciliary dyskine... OMIM:612444
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis, Testicular atrophy, Decre... OMIM:308700
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Ring Chromosome 21 Syndrome
Azoospermia, Infertility, Amenorrhea ORPHA:1445
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadis... ORPHA:280679
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Decre... ORPHA:330015
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tibia, Short humerus, Talipes... OMIM:607143
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Azoospermia, Non-obstruct... ORPHA:432
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial synostosis, Fore... OMIM:251230
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadis... OMIM:300845
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly, Recurrent aspiration pneumonia OMIM:258865
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... OMIM:227270
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence OMIM:235200
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Gapo Syndrome
Oligospermia, Hypogonadism, Amenorrhea, Dysmenorrhea ORPHA:2067
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Coxa valga, Abnormality of long bone morph... ORPHA:356961
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth, Short lower limbs OMIM:236640
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Irregular menstruation, Primary amenor... ORPHA:90793
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Tibial bowing,... OMIM:600785
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia, Breast hypoplasia OMIM:614813
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal labia majora morphology, Adrenocorticotropic hormone excess, Azoospermia, Cryptorchidism... ORPHA:90791
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Patellar hypoplasia, Absent tibia, Talipes equinovarus, Mirror ima... OMIM:119800
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing OMIM:166740
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Short ribs, Absent ti... OMIM:613091
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Micrognathia, Lower limb undergrowth, Forearm under... ORPHA:314795
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, Epispadias, Ambig... ORPHA:1772
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Radia... OMIM:164900
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Cone-shaped epiphyses of the pha... ORPHA:2751
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Omodysplasia 1
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee flexion, Micrognathia, L... OMIM:258315
Carney Complex
Elevated circulating growth hormone concentration, Testicular adrenal rest tumor, Abnormal morpho... ORPHA:1359
Bloom Syndrome
Azoospermia, Oligospermia, Premature ovarian insufficiency, Male infertility ORPHA:125
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Hypoplastic iliac ... ORPHA:96334
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Hypoplasia of penis, Hypogonadism ORPHA:251066
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly OMIM:165590
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal ovarian morphology, Primary amenorrhea, Adrenal hyperplasia, Polycystic ovaries, Cryptor... ORPHA:95699
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, Postaxial foot polydactyly, Fibular hypoplasia, 4-5 metacarpal... OMIM:206920
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Mi... OMIM:617925
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Azoospermia, Cryptorchidism, Leydig cell neoplasia, Precocious pub... ORPHA:361
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Diphallia
Ectopic scrotum, Bifid penis, Cryptorchidism, Abnormal spermatogenesis, Epispadias, Distal urethr... ORPHA:227
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyndactyly of ... OMIM:263520
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Broad hallux,... OMIM:304120
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Hypoplasia of th... OMIM:137920
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Brachymesomelia-Renal Syndrome
Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic arm shortening OMIM:113470
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia ORPHA:228123
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short humerus, Club... OMIM:108720
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Micrognathia, Abnormal... ORPHA:3035
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Abnormal spermatogenesis, Hypoplasia of the fallopian tube,... ORPHA:3464
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Tracheomalacia, Fibular hypoplasia, 11 pairs... ORPHA:140
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Ulnar bowing,... OMIM:211350
Tetrasomy 9P
Infertility, Absent gallbladder, Cryptorchidism, Micropenis, Oligospermia, Lissencephaly, Pachygy... ORPHA:3310
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly ... OMIM:228520
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Hypoplasia o... ORPHA:958
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis, Pancreatic cysts, Pheochromocytoma, Neo... OMIM:193300
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia of the mandible, Fibular bowing, ... ORPHA:85165
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency, Calf muscle pseudohypertrophy OMIM:310200
Cousin Syndrome
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... OMIM:260660
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... ORPHA:2879
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Prader-Willi Syndrome
Clinodactyly, Infertility, Hypogonadotropic hypogonadism, Acromicria, Short palm, Primary amenorr... OMIM:176270
Occipital Horn Syndrome
Brachydactyly, Coxa valga, Short palm, Absent tibia, Pes planus, Aplastic clavicle, Abnormality o... ORPHA:198
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Tracheomalacia, Fibular hypoplasia, Pes planus, 1... OMIM:114290
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Upper airway obstruction, Talipes equinovar... ORPHA:1827
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Hypoplasia of the ulna, Hypop... OMIM:200980
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Micrognathia, Polydactyly, Respiratory distress, Hypoventilation, Asp... ORPHA:314655
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Restrictive ventilatory defect, Absent patellar reflexes, Resp... ORPHA:70
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Hand clenching, Overlapping fingers OMIM:606056
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Cryptorchidism, Congenital posterior urethral valve, Hypospadias OMIM:136140
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Hypoventilation, Stridor OMIM:617143
Renal Dysplasia-Limb Defects Syndrome
Phocomelia, Short sternum, Short ribs, Short metacarpal, Respiratory failure, Hypoplasia of the r... OMIM:266910
Hydrolethalus Syndrome 1
Upper limb undergrowth, Duplication of phalanx of hallux, Micrognathia, Proximal tibial hypoplasi... OMIM:236680
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Hypoxemia, Nocturnal hypoventilation, Hypercapnia, Apnea, Central hypoventilation OMIM:209880
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Exertional dyspnea, Abno... ORPHA:98915
Bethlem Myopathy
Achilles tendon contracture, Curved toe phalanx, Camptodactyly of finger, Ankle flexion contractu... ORPHA:610
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Recurrent pneumonia, Finger joint hypermobility, Sleep apnea, Hypoventilation, Genu valgum OMIM:618493
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis, Pancreatic cysts, Adrenal pheochromocyt... ORPHA:892
Cystic Fibrosis
Recurrent pneumonia, Reduced forced expiratory volume in one second, Asthma, Clubbing of fingers,... OMIM:219700
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Charcot-Marie-Tooth Disease Type 4C
Pes valgus, Hammertoe, Pes planus, Abnormal foot morphology, Respiratory insufficiency, Pes cavus... ORPHA:99949
Camptodactyly Syndrome, Guadalajara, Type I
Brachydactyly, Toe syndactyly, Short palm, Short femoral neck, Fibular hypoplasia, Twelfth rib hy... OMIM:211910
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Cryptorchidism, Precocious puberty, Congenital posterior urethral va... ORPHA:2044
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Noonan Syndrome 1
Cryptorchidism, Hypospadias, Male infertility, Hypogonadism OMIM:163950
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Paranasal sinus hypoplasia, Fibular hypoplasia, Clinodactyly of the 5th finger, O... OMIM:300373
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Respiratory failure, Respiratory insufficiency, Atelectasis, Pulmonary arterial hyper... ORPHA:258
Mogs-Cdg
Apnea, Hypoventilation, Overlapping fingers, Respiratory distress ORPHA:79330
Alström Syndrome
Hyoplasia of the Leydig cells, Irregular menstruation, Precocious puberty in females, Polycystic ... ORPHA:64
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Phocomelia, Short sternum, Short ribs, Short metacarpal, Respir... ORPHA:3404
Orofaciodigital Syndrome Type 4
Genu varum, Finger syndactyly, Aplasia/Hypoplasia of the mandible, Micrognathia, Micromelia, Apla... ORPHA:2753
Kinsship Syndrome
Coxa valga, Fibular hypoplasia, Pes planus, Dislocated radial head, Micrognathia, Polydactyly, Re... OMIM:619297
Charge Syndrome
Bilateral talipes equinovarus, Hypogonadotropic hypogonadism, Hypoplasia of the ulna, Absent radi... OMIM:214800
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Restrictive ventilatory defect, Apnea, Aspiration pneumonia, Hypopnea OMIM:619482
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Hypoplasia of proximal radius, Tracheomalacia, Fibular hypoplasia, Asthma, Sleep a... ORPHA:444077
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Brachydactyly, Asthma, Obstructive sleep apnea, Cardiorespiratory arrest, Hypoventilation, Centra... ORPHA:293987
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Recurrent pneumonia, Respiratory failure, Micrognathia, Spontaneous pneumothorax ORPHA:731
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Central sleep apnea, Obstructive sleep apnea, Breathing dysregulation, Apnea, As... ORPHA:438213

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 Spata6

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 Spata6.

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

Title Journal IMPC Allele PubMed ID
Spata6 is required for normal assembly of the sperm connecting piece and tight head-tail conjunction. Proceedings of the National Academy of Sciences of the United States of America (January 2015) Spata6tm1a(KOMP)Wtsi PMC4321249

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MGI Allele Allele Type Produced
Spata6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Spata6tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Spata6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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