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Gene: Acvr1b MGI:1338944

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Gene Summary

Name:
activin A receptor, type 1B
Synonyms:
SKR2,  Acvrlk4,  Alk4,  ActR-IB,  ActRIB

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
abnormal uterus morphology Acvr1btm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal coat/ hair morphology Acvr1btm1.1(KOMP)Vlcg HET Early adult 2.49×10-05
embryonic lethality prior to tooth bud stage Acvr1btm1.1(KOMP)Vlcg HOM   E12.5 0.00
small adrenal glands Acvr1btm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged lymph nodes Acvr1btm1.1(KOMP)Vlcg HET Early adult 0.00
small testis Acvr1btm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, complete penetrance Acvr1btm1.1(KOMP)Vlcg HOM   Early adult 0.00

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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 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 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 50% (1 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 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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%
brain 0.0%
brainstem 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 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%
ovary 0.0%
oviduct 0.0%
pancreas 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%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

16 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Eye Morphology

Images Slit Lamp

5 Images

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Adult LacZ

LacZ Images Section

4 Images

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Human diseases caused by Acvr1b 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 Acvr1b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350

The table below shows human diseases predicted to be associated to Acvr1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201710
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Sparse axillary hair, Decreased ... ORPHA:52901
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... OMIM:202110
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... ORPHA:99429
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypospadias, Adrenal... OMIM:201910
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th... OMIM:158330
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ... ORPHA:3453
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Kennedy Disease
Testicular atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi... OMIM:615830
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... OMIM:277000
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... ORPHA:90790
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo... OMIM:308750
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Absence of secondary sex characteristics, Non-obstructive az... ORPHA:432
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster... ORPHA:96181
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Lymph node hypoplasia, Alopecia of scalp, Splenomegaly, Aplasia of the thymus, Ge... OMIM:602450
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo... ORPHA:3130
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Hemochromatosis, Type 1
Impotence, Alopecia, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Testic... OMIM:235200
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Nail dystrophy OMIM:613987
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Abnormal circul... ORPHA:90794
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroe... ORPHA:189427
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Adrenal gland agenesis, Sex reversal OMIM:611812
Amed Syndrome, Digenic
Bone marrow hypocellularity, Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism OMIM:160900
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Bone Marrow Failure Syndrome 5
Testicular atrophy, Nail dystrophy, Hypogonadism OMIM:618165
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... OMIM:241080
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Satoyoshi Syndrome
Alopecia, Amenorrhea, Hypoplasia of the uterus, Alopecia universalis OMIM:600705
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased... ORPHA:3464
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Vaginal atresia, Asplenia, Hypoplasia of the f... OMIM:273395
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... ORPHA:465508
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... ORPHA:2237
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus, Hypospadias OMIM:236680
Cushing Disease
Abnormal libido, Secondary amenorrhea, Increased circulating cortisol level, Increased urinary co... ORPHA:96253
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Amenorrhea,... OMIM:110100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse p... OMIM:618419
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Highly arched eyebrow, Hypertrichosis, Decreased response to growth hormone stimulation test, Lon... OMIM:615866
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Breast aplasia, Aplasia of the ovary, Aplasia of the ute... ORPHA:69085
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Hypertrichosis, Cryptorchidism, Ovarian cyst, Aplasia of t... OMIM:614527
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Supernumerary nipple, Abnormal reproductive system morphology, Low posterior hair... ORPHA:1521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Agammaglobulinemia, X-Linked
Prostatitis, Lymph node hypoplasia, Epididymitis OMIM:300755
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Microphthalmia, Syndromic 9
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... OMIM:601186
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... OMIM:618280
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Doors Syndrome
Congenital hypothyroidism, Ambiguous genitalia, Adrenal hyperplasia, Low anterior hairline ORPHA:79500
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Steinert Myotonic Dystrophy
Early balding, Male hypogonadism, Cholelithiasis, Impotence, Alopecia, Decreased response to grow... ORPHA:273
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Hypospadias,... ORPHA:3063
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Abnormal hair whorl, Aplasia of the vagina ORPHA:457284
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Bone marrow hypocellularity OMIM:614083
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Hepatosplenomegaly, Pancreatic cysts OMIM:274000
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Hypertrichosis, Long eyelashes, Thick eyeb... OMIM:135900
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Highly arched eyebrow, Cryptorchidism, Low posterior hairli... OMIM:194190
Okamoto Syndrome
Facial hypertrichosis, Hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Sp... ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Alopecia of scalp, Cryptorchidism, Uterine prolapse, Cervical insuffi... OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Absent eyelashes, Cryptorchidism OMIM:256520
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Hypothyroidism, Rectoperineal fistula, Bifid uterus, Rectovaginal ... OMIM:107480
Norrie Disease
Uterine rupture, Cryptorchidism, Delayed puberty, Erectile dysfunction, Diabetes mellitus ORPHA:649
Pallister-Killian Syndrome
Small scrotum, Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Crypto... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Alopecia, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Aplasia/Hypoplasia of the... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Peters Plus Syndrome
Congenital hypothyroidism, Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hypopi... ORPHA:709
Peters-Plus Syndrome
Facial hypertrichosis, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Biloba... OMIM:261540
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350

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 Acvr1b

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 Acvr1b.

No publications found that use IMPC mice or data for Acvr1b.

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
Acvr1btm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Acvr1btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Acvr1btm442836(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acvr1btm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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