Gene Summary

Name:
SPARC-like 1
Synonyms:
Ecm2,  Sc1,  hevin,  mast9

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 uterus morphology Sparcl1em1(IMPC)Mbp HOM Early adult 0.00
hydrometra Sparcl1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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 Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Sparcl1 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 Sparcl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Gliosis, Cerebellar hypo... OMIM:225753
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Huntington Disease
Cerebellar atrophy, Gliosis OMIM:143100
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Gliosis OMIM:236792
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Gliosis, Cerebellar hypoplasia, Cerebellar vermis atrophy OMIM:213200
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Gliosis OMIM:615095
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Gliosis, Cerebellar hypoplasia, Abnormal astrocyte morphology ORPHA:168486
Developmental And Epileptic Encephalopathy 14
Gliosis OMIM:614959
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Gliosis OMIM:618369
Hemimegalencephaly
Gliosis, Abnormal neuron morphology ORPHA:99802
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis OMIM:604484
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm ORPHA:145
Pick Disease Of Brain
Gliosis OMIM:172700
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis OMIM:604218
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Spinocerebellar Ataxia 17
Cerebellar atrophy, Gliosis OMIM:607136
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Gliosis, Abnormal upper motor neuron morphology ORPHA:275872
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Gliosis OMIM:300957
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Gliosis OMIM:612936
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis OMIM:221820
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar gliosis, Gliosis, Basal ganglia gliosis, Cerebellar cyst ORPHA:79243
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gliosis OMIM:221770
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Cerebellar dysplasia ORPHA:457240
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis ORPHA:204
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Leukoencephalopathy With Vanishing White Matter 1
Gliosis OMIM:603896
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Gliosis OMIM:256600
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Gliosis, Cerebellar hypoplasia OMIM:214150
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Gliosis, Cerebellar hypoplasia OMIM:277470
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Abnormal cerebellum morphology, Gliosis OMIM:169500
Huntington Disease-Like 1
Cerebellar atrophy, Gliosis ORPHA:157941
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Basal ganglia gliosis, Gliosis OMIM:604377
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Gliosis OMIM:616239
Lissencephaly, X-Linked, 2
Gliosis OMIM:300215
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Basal ganglia gliosis, Gliosis OMIM:614946
Leigh Syndrome
Gliosis OMIM:256000
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Gliosis OMIM:109150
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis OMIM:614498
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis, Cerebellar hypoplasia ORPHA:280210
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Gliosis, Cerebellar hypoplasia ORPHA:3240
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Cerebellar hypoplasia ORPHA:261652
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Familial Acute Necrotizing Encephalopathy
Gliosis ORPHA:88619
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Gliosis OMIM:617193
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Gliosis OMIM:248500
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Gliosis OMIM:619847
Progressive Supranuclear Palsy
Gliosis ORPHA:683
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Leigh Syndrome
Cerebellar atrophy, Olivopontocerebellar atrophy, Gliosis, Abnormal dentate nucleus morphology ORPHA:506
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis ORPHA:26791
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis OMIM:607485
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Papillorenal Syndrome
Chiari type I malformation, Gliosis OMIM:120330
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Parkinson Disease 1, Autosomal Dominant
Gliosis OMIM:168601
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Tay-Sachs Disease
Cerebellar atrophy, Gliosis ORPHA:845
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gliosis OMIM:618321
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Gliosis OMIM:261515
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Gliosis OMIM:301072
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Mitochondrial Complex I Deficiency, Nuclear Type 2
Gliosis OMIM:618222
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Abnormal cerebellum morphology, Glio... ORPHA:909
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina ORPHA:2237
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Gliosis, Astrocytosis OMIM:203700
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis OMIM:252160
Hereditary Late-Onset Parkinson Disease
Gliosis ORPHA:411602
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis OMIM:252150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Gliosis, Cerebellar hypoplasia OMIM:300868
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Gliosis ORPHA:404454
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Supranuclear Palsy, Progressive, 1
Gliosis, Astrocytosis OMIM:601104
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Cockayne Syndrome
Cerebellar atrophy, Gliosis, Dense calcifications in the cerebellar dentate nucleus ORPHA:191
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Congenital Disorder Of Deglycosylation 1
Gliosis OMIM:615273
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Gliosis OMIM:124000
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Helsmoortel-Van Der Aa Syndrome
Gliosis OMIM:615873
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Supranuclear Palsy, Progressive, 2
Gliosis OMIM:609454
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Gliosis ORPHA:268261
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Gliosis OMIM:220111
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... ORPHA:3464
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Gabriele-De Vries Syndrome
Gliosis ORPHA:506358
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Clitoral hypoplasia, Hypoplastic labia majora, Hypoplasia of the uterus OMIM:618419
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus OMIM:236680
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus OMIM:194190
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Coffin-Siris Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus OMIM:135900
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Okamoto Syndrome
Bifid uterus ORPHA:2729
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... OMIM:601803

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 Sparcl1

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 Sparcl1.

No publications found that use IMPC mice or data for Sparcl1.

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MGI Allele Allele Type Produced
Sparcl1tm96918(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sparcl1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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