Gene Summary

Name:
prenyl (solanesyl) diphosphate synthase, subunit 1
Synonyms:
2610203G20Rik,  2700031G06Rik,  Tprt,  mSPS1

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
preweaning lethality, complete penetrance Pdss1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal adrenal gland morphology Pdss1em1(IMPC)Mbp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Pdss1em1(IMPC)Mbp HOM   E15.5 0.00
embryonic lethality prior to organogenesis Pdss1em1(IMPC)Mbp HOM   E9.5 0.00
abnormal ovary morphology Pdss1em1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Pdss1em1(IMPC)Mbp HET Early adult 0.00
enlarged ovary Pdss1em1(IMPC)Mbp HET 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 Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Pdss1 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.

The table below shows human diseases associated to Pdss1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coenzyme Q10 Deficiency, Primary, 2
OMIM:614651

The table below shows human diseases predicted to be associated to Pdss1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia OMIM:202150
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-r... ORPHA:90301
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia, Hypospadias OMIM:201710
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism OMIM:103900
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Pancrea... ORPHA:79084
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Delayed puberty, Panhypopituitarism, Increased serum testosterone lev... ORPHA:91348
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia OMIM:202110
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Micropenis, Absent scrotum, Male pseudohermaphroditism, Ambiguous genitalia, ... OMIM:201810
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Streak ovary, Reduced antral follicle c... OMIM:611548
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Enlarged polycystic ovaries, Increa... ORPHA:785
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Cryptorchidism, Abnormal morphology of female internal genital... ORPHA:2138
Ovarian Dysgenesis 2
Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus, Premature ovarian ... OMIM:300510
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... ORPHA:90793
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hepatic steatosis, Polycystic ovaries, Hyperinsulinem... ORPHA:280356
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty OMIM:300604
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201910
Premature Ovarian Failure 19
Premature ovarian insufficiency OMIM:619245
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circulating corticostero... ORPHA:90796
Insulin-Resistance Syndrome Type B
Diabetic ketoacidosis, Abnormal salivary gland morphology, Biliary cirrhosis, Hyperinsulinemia, P... ORPHA:2298
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Ovarian Fibroma
Mesenteric cyst, Abnormality of the ovary, Peritonitis, Gonadal calcification, Ovarian fibroma ORPHA:314473
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ovarian neoplasm, Elev... OMIM:615723
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Biliary tract neoplasm, Enlarged polycystic ovaries, Cervix cance... ORPHA:2869
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619665
Aromatase Deficiency
Hypergonadotropic hypogonadism, Female pseudohermaphroditism, Ovarian cyst OMIM:613546
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the liver, Abnormality of the... ORPHA:543
Premature Ovarian Failure 10
Hypothyroidism, Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating... OMIM:612885
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Increased pineal volume, Increased serum testosterone leve... ORPHA:769
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:404
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Male pseudohermaphroditism, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90791
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperal... ORPHA:403
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Aromatase Deficiency
Hepatic steatosis, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Macr... ORPHA:91
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Elevated c... OMIM:619203
Ring Chromosome Y Syndrome
Unilateral cryptorchidism, Abnormality of the female genitalia, Perineal hypospadias, Abnormality... ORPHA:261529
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Abnormality of female external genitalia, Jaundice, Male ps... ORPHA:90790
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Decreased circ... OMIM:228300
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Decreased adiponectin level, Insulin-resista... ORPHA:79085
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Polycystic ovaries, Abnormality ... ORPHA:1227
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Central hypothyroidism, Increased circulating renin level, Enl... ORPHA:508
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Adrenal hyperplasia, Decreased circul... OMIM:219080
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal external genitalia, Abno... ORPHA:95699
Preeclampsia
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Type I diabetes mellitus, ... ORPHA:275555
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Opitz Gbbb Syndrome
Cryptorchidism, Shawl scrotum, Enlarged ovaries, Thyroglossal cyst, Bifid scrotum, Bicornuate ute... ORPHA:2745
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Decreased adiponectin level, Insulin-resista... ORPHA:435651
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Diabetes mellitus, Primary hypercortis... OMIM:615830
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Decreased serum testosterone concentra... OMIM:614841
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... ORPHA:251274
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Polycystic ovaries, Hyperinsulinemia, Cryptorchidism, Type II diabetes mellitus, Hypergonadotropi... ORPHA:3085
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Testicular neoplasm, Increased urinary cortisol level, Paradoxical increased c... ORPHA:189439
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Micropenis, Decreased ser... OMIM:618841
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Polycystic ovaries, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Typ... OMIM:604367
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Perrault Syndrome 2
Streak ovary OMIM:614926
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Decreased circulating aldosterone level, Oligospermia, Abnormal... ORPHA:786
Ataxia-Telangiectasia
Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Diabetes mellitus, Type II diabetes mellitu... ORPHA:100
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... OMIM:194072
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Insulin-re... ORPHA:435660
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level, Clitoral hy... ORPHA:96181
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries ORPHA:2795
Cystic Echinococcosis
Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruction, Hepatomeg... ORPHA:400
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Polycystic ovaries, Test... ORPHA:90795
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Abnormal response to corticotropin releasing hormone stimulation test, Macrono... ORPHA:189427
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Elevated hepatic transaminase, Polycystic ovaries, Insulin-resist... OMIM:268020
Congenital Generalized Lipodystrophy
Hepatic steatosis, Precocious puberty in females, Polycystic ovaries, Hyperinsulinemia, Hepatomeg... ORPHA:528
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Perineal hypospadias, Azoospermia, ... ORPHA:90797
Donohue Syndrome
Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Long penis, Ovarian cyst, Preco... OMIM:246200
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Hypoplasia o... ORPHA:3130
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Abnorm... ORPHA:251510
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Abnormality of the thyroid gland, Abnormality of the... ORPHA:201
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Polycystic ovaries, Cholestasis, Splenomegaly, Hepatomegaly, Hepatocellular ad... ORPHA:370
Mccune-Albright Syndrome
Abnormal endocrine physiology, Cholestasis, Goiter, Increased serum testosterone level, Abnormali... ORPHA:562
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Ovotestis, Hypospadias, Adrenal gland agenesis OMIM:611812
Primary Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Type II diabetes mellitus, Pancreatitis, Cir... ORPHA:90970
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Insulin-resistant diabetes mel... ORPHA:79083
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Right ventricular hypertrophy, Left ventri... ORPHA:335
Tetraamelia Syndrome 1
Adrenal gland agenesis, Vaginal atresia, Absent external genitalia, Hypoplasia of the fallopian t... OMIM:273395
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Diabetes mellitus, Pancreatitis ORPHA:2348
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Polycystic ovaries, Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal penis m... ORPHA:457059
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Hypoplasia of the uterus, Abnormal ... ORPHA:247768
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Polycystic ovaries, Cholestasis, Splenomegaly, Hepatomegaly, Hepatocellular ad... ORPHA:264580
Cowden Syndrome 6
Hypothyroidism, Varicocele, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis,... OMIM:615109
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis, Thyroid ade... OMIM:615108
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Increased circulat... OMIM:615300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Ovarian cyst, Biliary tract abnorma... OMIM:175200
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Insuli... ORPHA:79086
Cowden Syndrome 1
Hypothyroidism, Varicocele, Hyperthyroidism, Ovarian carcinoma, Ovarian cyst, Thyroiditis, Goiter... OMIM:158350
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatoc... ORPHA:79240
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Bilateral cryptorchidism, Epispadias, Ambiguo... ORPHA:1772
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Proteus Syndrome
Diabetes insipidus, Testicular neoplasm, Splenomegaly, Long penis, Ovarian neoplasm, Thymus hyper... ORPHA:744
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Hyperinsulinemia, Splenomegaly, Labial... OMIM:608594
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Abnormality of the ovary, Micropenis, Vaginal atresia, Diabetes mellitus, Bilia... OMIM:209900
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma ORPHA:454840
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis, Abnormal vagina morphology, Bifid uterus, Hypospadias OMIM:236680
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Hyperinsulinemia, Splenomegaly, Labial... OMIM:269700
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Insuli... OMIM:151660
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Leydig cell neop... ORPHA:1359
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Delayed puberty, Cryptorchidism, Non-obstru... ORPHA:2232
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Decreased adiponectin level, D... ORPHA:280365
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperthyroidism, Elevated circulating growth ... ORPHA:249
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Nodular goiter, Type I diabetes mellitus, Polycystic ovaries ORPHA:371428
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Medullary thyroid carcinoma, Increased urinary cortisol level, Pancrea... ORPHA:99889
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Paradoxical increased cor... ORPHA:96253
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Diabetes m... OMIM:241080
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased circulating progesterone, Polycystic ovaries, Elevated circul... ORPHA:572333
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Enlarged kidney, Hepatic steatosis, Polycystic ovaries, Increased hepatic glycoge... ORPHA:79259
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Elevated hepatic tran... OMIM:614527
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic cysts, Ovarian cyst, Hepatic fibrosis OMIM:311200
Doors Syndrome
Adrenal hyperplasia, Ambiguous genitalia, Congenital hypothyroidism ORPHA:79500
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Chordee, Polycystic ovaries, Cryptorchidism, Micropenis, Elevated circulating 17-h... OMIM:201750
Digeorge Syndrome
Cholelithiasis, Hypothyroidism, Hepatic steatosis, Parathyroid agenesis, Abnormality of the thymu... OMIM:188400
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperinsulinemia, Hashimoto thyroiditis, Abnormality of the... ORPHA:99228
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperinsulinemia, Hashimoto thyroiditis, Abnormality of the... ORPHA:99226
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Hyperinsulinemia, Hashimoto thyroiditis, Abnormality of the... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Hyperinsulinemia, Hashimoto thyroiditis, Abnormality of the... ORPHA:99413
Histiocytoid Cardiomyopathy
Cardiomegaly, Hepatomegaly, Polycystic ovaries ORPHA:137675
Alström Syndrome
Hyoplasia of the Leydig cells, Hepatic failure, Decreased circulating T4 level, Oligospermia, Inc... ORPHA:64
Williams Syndrome
Cholelithiasis, Hypogonadotropic hypogonadism, Hypothyroidism, Polycystic ovaries, Cryptorchidism... ORPHA:904
Coenzyme Q10 Deficiency, Primary, 2
OMIM:614651

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 Pdss1

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 Pdss1.

No publications found that use IMPC mice or data for Pdss1.

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MGI Allele Allele Type Produced
Pdss1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pdss1tm295534(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pdss1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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