Gene Summary

Name:
SCO-spondin
Synonyms:
Scospondin,  C79529

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
abnormal sternum morphology Sspoem8(IMPC)Tcp HOM Early adult 0.00
abnormal uterus morphology Sspoem8(IMPC)Tcp HOM Early adult 0.00
abnormal eye morphology Sspoem8(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

65 Images

Eye Morphology

Images Slit Lamp

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Sspo 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 Sspo by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys, Postaxial hand polydactyly, Split hand OMIM:146160
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Cryptorchidism OMIM:184800
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Satoyoshi Syndrome
Abnormality of the ovary, Genu varum, Abnormality of femur morphology, Tapered finger, Abnormalit... ORPHA:3130
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Short finger, Short toe, Short phalanx of finger, Aplasia/Hyp... OMIM:609441
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:612964
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia of the uterus, Genu varum, Aplasia/Hy... ORPHA:3320
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... OMIM:614841
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Satoyoshi Syndrome
Short metatarsal, Genu valgum, Short metacarpal, Osteolytic defects of the phalanges of the hand,... OMIM:600705
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos OMIM:237100
Multiple Synostoses Syndrome 1
Tarsal synostosis, Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Proximal s... OMIM:186500
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Thin ribs, Urethral atresia, Missing ribs, Short ribs, Rib fusion, Absent ... OMIM:271520
Seckel Syndrome 7
Abnormality of the carpal bones, Hip dysplasia, Clinodactyly, Hypoplasia of the uterus OMIM:614851
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Phocomelia, Schinzel Type
Abnormality of tibia morphology, Fibular aplasia, Aplasia of the uterus, Radial bowing, Hand olig... ORPHA:2879
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, 11 pairs of ribs, Rib fusion, Absent external genitalia,... ORPHA:94095
Kennerknecht Syndrome
Toe syndactyly, Agonadism, Toe clinodactyly, Acetabular dysplasia, Hypoplasia of the uterus OMIM:600908
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia of the uterus, Genu varum, Patellar a... OMIM:274000
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Brachydactyly, Hypoplasia of the uterus ORPHA:247768
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia of the uterus, Phocomelia, ... OMIM:276820
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Perrault Syndrome 4
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... OMIM:615300
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Normosmic Congenital Hypogonadotropic Hypogonadism
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... ORPHA:432
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Amed Syndrome, Digenic
Long thumb, Hypoplasia of the uterus OMIM:619151
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:289548
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Cutaneous finger syndactyly, Bifid scrotum, Hypoplasia of the vagina, C... OMIM:119500
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, 2-3 toe syndactyly, Pseudoepiphyses of second metacarpal, Bifid scro... OMIM:107480
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... OMIM:202010
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Upper limb undergrowth, Urethral stenosis, Aplasia of the vagina, Unicornu... OMIM:614527
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... ORPHA:90796
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Testicular adrenal rest... ORPHA:90794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Postaxial polydactyly, Hip dysplasia, Broad hallux, Clinodactyly of the 5t... ORPHA:457284
Craniorachischisis
Bifid sternum ORPHA:63260
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Unilateral brachydactyly, Syndactyly, Bifid uterus ORPHA:1521
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
Limb-Mammary Syndrome
Toe syndactyly, Aplasia of the uterus, Aplasia of the ovary, Syndactyly, 3-4 finger cutaneous syn... ORPHA:69085
Ulbright-Hodes Syndrome
Enlarged labia minora, Fibular aplasia, Abnormal penis morphology, Abnormal forearm bone morpholo... ORPHA:3404
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio... ORPHA:284339
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Micropenis, Premature ovarian in... OMIM:241080
Coffin-Lowry Syndrome
Tapered finger, Bifid sternum, Narrow iliac wing, Uterine prolapse, Short metacarpal, Drumstick t... OMIM:303600
Wolf-Hirschhorn Syndrome
Hypospadias, Short hallux, Aplasia of the uterus, Metatarsus adductus, Rib segmentation abnormali... OMIM:194190
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism OMIM:618280
Coffin-Siris Syndrome 1
Hypospadias, Aplasia of the uterus, Aplasia/Hypoplasia of the patella, Prominent interphalangeal ... OMIM:135900
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... ORPHA:3464
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of the uterus OMIM:309801
Neu-Laxova Syndrome 1
Toe syndactyly, Bifid uterus, Rocker bottom foot, Calcaneovalgus deformity, Finger syndactyly, Ra... OMIM:256520
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Upper limb undergrowth, Bifid uterus, Duplication of pha... OMIM:236680
Rubinstein-Taybi Syndrome 1
Hypospadias, Bifid uterus, Polydactyly, Radial deviation of thumb terminal phalanx, Broad finger,... OMIM:180849
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:110100
Microphthalmia, Syndromic 9
Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Foot acroosteolysis, Cervical insufficiency, Uterine prolapse, Finger joint hype... OMIM:130050
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... ORPHA:322
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Peters-Plus Syndrome
Hypospadias, Hypoplastic labia majora, Short metatarsal, Hypoplasia of the vagina, Proximal place... OMIM:261540
Okamoto Syndrome
Hip dysplasia, Polydactyly, Bifid uterus ORPHA:2729
Loeys-Dietz Syndrome
Uterine rupture, Arachnodactyly, Camptodactyly of finger ORPHA:60030
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Polycystic ovaries, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... ORPHA:572333
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Camptodactyly of 2nd-5th fingers, S... OMIM:601803
Peters Plus Syndrome
Hypospadias, Toe syndactyly, Clinodactyly of the 5th finger, Short foot, Short toe, Clitoral hypo... ORPHA:709
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Congenital hip dislocation, Uterine prolapse, Cystocele, Cryptorchi... ORPHA:286
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649

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 Sspo

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 Sspo.

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

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MGI Allele Allele Type Produced
Sspoem8(IMPC)Tcp Exon Deletion Mice

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