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

IMPC Data Collections

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

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.

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
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Irregular menstruation, Premature pubarche, ... ORPHA:90795
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Adrenocorticotropic hormone deficiency, Ovarian cyst, Oligosperm... ORPHA:91348
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... ORPHA:180229
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligospe... ORPHA:8
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:66628
Mccune-Albright Syndrome
Abnormal endocrine physiology, Decreased fertility, Irregular menstruation, Goiter, Increased ser... ORPHA:562
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:179494
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Miscarriage, Congenital adrenal hyperplasia... ORPHA:96181
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... ORPHA:247768
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Absence of secondary sex characterist... ORPHA:163976
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... ORPHA:325124
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Absence of secondary sex characterist... ORPHA:163971
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... OMIM:300869
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Increased pineal volume, Increased serum testosterone leve... ORPHA:769
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Insulin-Resistance Syndrome Type B
Diabetic ketoacidosis, Abnormal salivary gland morphology, Polycystic ovaries, Hyperinsulinemia, ... ORPHA:2298
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Azoospermia, Non-obstruct... ORPHA:432
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Generalized Glucocorticoid Resistance Syndrome
Infertility, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level, Oligospermia,... ORPHA:786
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Micr... ORPHA:3464
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hyperlipidemia, Micropenis, Decreased serum testosterone concentra... OMIM:241080
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Testicular adr... ORPHA:361
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Abnormality of female external genitalia, Male pseudohermap... ORPHA:90790
Ane Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnormal response to ACTH stimulati... ORPHA:157954
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Increased serum testosterone level, Long penis, Hypertriglyceridemia, Hypospadias OMIM:264090
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Breas... ORPHA:3044
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Increased serum testosterone level, Hyperthyroidis... ORPHA:3455
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Infertility, Hypothyroidism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Micropenis, Decreased serum testosterone concentration, Decreased serum estradio... ORPHA:2959
Pseudoleprechaunism Syndrome, Patterson Type
Increased circulating androgen concentration, Diabetes mellitus, Premature adrenarche ORPHA:2976
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Meningioma
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:2495
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Alström Syndrome
Hyoplasia of the Leydig cells, Irregular menstruation, Decreased fertility in males, Oligospermia... ORPHA:64
Steinert Myotonic Dystrophy
Cholelithiasis, Abnormality of thyroid physiology, Hypercholesterolemia, Hyperinsulinemia, Decrea... ORPHA:273
Robinow Syndrome
Hypoplastic labia majora, Small scrotum, Cryptorchidism, Micropenis, Clitoral hypoplasia, Decreas... ORPHA:97360
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Hypoplastic labia minora, Decreased serum testosterone concentration, Absent scro... 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.

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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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