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Gene: Acsbg1 MGI:2385656

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
acyl-CoA synthetase bubblegum family member 1
Synonyms:
E230019G03Rik,  BG1,  Lpd,  Bgm

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Acsbg1 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 Acsbg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Precocious puberty, Clitoral hypertrophy, Long penis, Premature adrenarch... ORPHA:90795
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Polyembryoma
Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ... ORPHA:180229
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Increased circu... OMIM:610489
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... ORPHA:90794
Mccune-Albright Syndrome
Irregular menstruation, Precocious puberty, Increased circulating cortisol level, Increased circu... ORPHA:562
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:168558
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster... ORPHA:96181
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... ORPHA:1501
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
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
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe... ORPHA:432
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Long penis, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level, Hypertr... OMIM:264090
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
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
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... ORPHA:90790
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... ORPHA:3044
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Panc... ORPHA:99889
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... ORPHA:2959
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration OMIM:201100
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Incr... ORPHA:2495
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... ORPHA:273
Robinow Syndrome
Webbed penis, Small scrotum, Decreased serum testosterone concentration, External genital hypopla... ORPHA:97360
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Decreased serum testosterone concentration, Absent scrotum, Cryptorchidism, Absence ... ORPHA:495875

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 Acsbg1

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 Acsbg1.

No publications found that use IMPC mice or data for Acsbg1.

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
Acsbg1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Acsbg1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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