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Gene: Pde8a MGI:1277116

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Gene Summary

Name:
phosphodiesterase 8A
Synonyms:
Pde8

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased lean body mass Pde8atm1b(EUCOMM)Hmgu HOM Early adult 5.32×10-09
increased total body fat amount Pde8atm1b(EUCOMM)Hmgu HOM Early adult 6.54×10-08

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote Not available
Tail somite N/A homozygote Not available
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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

12 Images

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Adult LacZ

LacZ Images Wholemount

18 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

1 Images

View images

Human diseases caused by Pde8a 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 Pde8a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:616950
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:108420
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Spermatogenic Failure 44
Abnormal circulating testosterone concentration OMIM:619044
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormal circulating estrogen level OMIM:619009
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:620103
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:301077
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Spermatogenic Failure 28
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:618086
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:614839
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum testosterone concentration, Decreased serum estradiol, Hypothalamic gonadotropin-... OMIM:618841
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Abnormal c... ORPHA:79320
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Increased serum testosterone level, Increased circulating corti... OMIM:615962
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat... OMIM:614842
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Absen... OMIM:273250
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618187
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... ORPHA:90793
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased ci... OMIM:614897
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Androgen insufficienc... OMIM:228300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... ORPHA:163976
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Type II diabetes mellitus, Hy... ORPHA:453533
Estrogen Resistance
Hyperinsulinemia, Increased serum estradiol, Increased circulating osteocalcin level, Delayed pub... OMIM:615363
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Decre... ORPHA:90790
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Hypogonadism OMIM:300869
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... ORPHA:163971
Polyembryoma
Increased serum serotonin, Abnormal circulating gonadotropin concentration, Increased serum testo... ORPHA:180229
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... OMIM:158330
Leukoencephalopathy With Vanishing White Matter 1
Primary gonadal insufficiency, Decreased circulating progesterone OMIM:603896
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... ORPHA:168563
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased serum testosterone concentration, Hypothalamic gonadotropin-releasing hormone deficienc... OMIM:308700
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Increased serum estradiol, Abnormal circulating f... ORPHA:99429
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Primary gonadal insufficiency, Decre... ORPHA:261534
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Gonadoblastoma
Increased serum testosterone level ORPHA:206484
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration ORPHA:314478
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... OMIM:202010
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:293978
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Primary gonadal insufficiency, Decre... ORPHA:99330
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Adrenal calcification, Absence of secondary sex c... ORPHA:289548
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal circulating estrogen level, Increased se... ORPHA:90797
Rabson-Mendenhall Syndrome
Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypothyroidism... ORPHA:769
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Decreased serum testosterone concentration, Hypogonadism OMIM:201100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Absence of secondary sex characteristics, Increas... ORPHA:168558
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... ORPHA:2959
Leydig Cell Hypoplasia
Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... ORPHA:755
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Portal hypertension, Hypogonadotropic hypogonadism, C... ORPHA:465508
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism OMIM:604168
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Type I diabetes mellitus, Elevated circulating lutein... ORPHA:3044
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Frasier Syndrome
Increased circulating gonadotropin level, Decreased serum estradiol, Streak ovary, Hypergonadotro... ORPHA:347
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level, Hepatitis, Increased circulating prolac... ORPHA:562
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Decreased serum estradiol, Streak ovary, Delayed puberty ORPHA:243
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Delay... OMIM:305400
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Dec... ORPHA:432
Perrault Syndrome 4
Increased circulating gonadotropin level, Decreased serum estradiol, Hypoplasia of the ovary OMIM:615300
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level ORPHA:247768
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level ORPHA:8
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Decre... ORPHA:2232
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level ORPHA:64739
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas... ORPHA:99889
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Absence of secondary s... ORPHA:251510
46,Xx Sex Reversal 2
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:278850
Testicular Agenesis
Decreased serum testosterone concentration, Increased circulating gonadotropin level ORPHA:325124
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Steinert Myotonic Dystrophy
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Decreased response to... ORPHA:273
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Hypothyroidism, Delayed puberty, Increa... ORPHA:1772
Robinow Syndrome
Decreased serum testosterone concentration ORPHA:97360
Alström Syndrome
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:64
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:3455
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Decreased serum testosterone concentration ORPHA:495875
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Increased serum testosterone level OMIM:264090

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 Pde8a

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 Pde8a.

No publications found that use IMPC mice or data for Pde8a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pde8atm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Pde8atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, ES Cells

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