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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
embryonic lethality prior to tooth bud stage Acvr1btm1.1(KOMP)Vlcg HOM   E12.5 0.00
abnormal uterus morphology 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
abnormal coat/ hair morphology Acvr1btm1.1(KOMP)Vlcg HET Early adult 2.49×10-05
small adrenal glands 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
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
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)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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.

Eye Morphology

Images Slit Lamp

5 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 Whole Body Lateral Orientation

16 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Hind Leg and Hip

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Adult LacZ

LacZ Images Section

4 Images

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Eye Morphology

Images Ophthalmoscopy

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
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... OMIM:273250
Ovarian Dysgenesis 6
Primary amenorrhea, Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Leydig Cell Hypoplasia
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Androgen Insensitivity Syndrome
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of... ORPHA:754
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Adrenogenital syndrome, Male pseudo... OMIM:202110
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Complete Androgen Insensitivity Syndrome
Delayed puberty, Increased serum testosterone level, Aplasia/Hypoplasia of the fallopian tube, Ap... ORPHA:99429
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Elevated circulating f... OMIM:612964
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Delayed puberty, Decreased testicular size, Bilateral breast hypoplasia, Testicul... ORPHA:52901
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Decreased ci... OMIM:614841
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Impaired cortisol response to corticotropin releasing hormone stimulation test, Adrenal hyperplas... OMIM:201810
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Elevated circulating follicle... OMIM:612965
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome OMIM:103900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... OMIM:202010
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Ovarian Dysgenesis 9
Delayed puberty, Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulatio... OMIM:619665
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular d... ORPHA:168563
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201910
Premature Ovarian Failure 18
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Premature ovar... OMIM:619203
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... OMIM:618117
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... ORPHA:3453
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the fallopian tube, Primary ameno... OMIM:158330
Diethylstilbestrol Syndrome
Decreased fertility in females, Cryptorchidism, Premature ovarian insufficiency, Micropenis, Abno... ORPHA:1916
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased circulating ... OMIM:614837
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Testicular Agenesis
Absent testis, Micropenis, Ambiguous genitalia, Urethrovaginal fistula, Urogenital sinus anomaly,... ORPHA:325124
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Front... ORPHA:786
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Alopecia, Primary h... OMIM:615830
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:404
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Ovarian Dysgenesis 5
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:617690
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... ORPHA:251510
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Increased circulating ACTH level, Abnormal circulating androgen level, Femal... ORPHA:90790
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypoplasia of the uterus, Decre... OMIM:614842
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnor... ORPHA:319487
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:289548
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnor... ORPHA:97290
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hy... ORPHA:96181
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Aplasia of the thymus, Alopecia of scalp, Genital ul... OMIM:602450
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Frontal balding, Primary amenorrhea, Abnormality of the ovary... ORPHA:247768
Satoyoshi Syndrome
Hypoplasia of the ovary, Alopecia universalis, Abnormality of the ovary, Nephrogenic diabetes ins... ORPHA:3130
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Decreased ci... OMIM:219080
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:168558
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Abnormal libido, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Al... ORPHA:189439
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Alopecia, Splenomegaly, Azoospermia, Impotence, Amenorrhea... OMIM:235200
Perrault Syndrome 4
Oligomenorrhea, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary amenorrhea, Hyp... OMIM:615300
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... OMIM:194072
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Testicular atrophy, Nail dystrophy OMIM:613987
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abnormal libido, Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimula... ORPHA:189427
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Primary amenorrhea, Elevate... ORPHA:95699
Estrogen Resistance Syndrome
Primary amenorrhea, Breast hypoplasia, Abnormality of the pubic hair, Hypoplasia of the uterus, H... ORPHA:785
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... ORPHA:90794
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis OMIM:266810
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... ORPHA:2975
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis, Ovotestis, Sex reversal OMIM:611812
Amed Syndrome, Digenic
Bone marrow hypocellularity, Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Myotonic Dystrophy 1
Frontal balding, Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Vaginal Atresia
Uterus didelphys, Cervicitis, Primary amenorrhea, Imperforate hymen, Transverse vaginal septum, V... ORPHA:65681
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Dexamethasone-suppressible p... ORPHA:369929
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating... ORPHA:231580
Woodhouse-Sakati Syndrome
Decreased testicular size, Premature ovarian insufficiency, Micropenis, Diabetes mellitus, Fine h... OMIM:241080
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism, Nail dystrophy OMIM:618165
Tetraamelia Syndrome 1
Asplenia, Hypoplasia of the fallopian tube, Absent external genitalia, Vaginal atresia, Adrenal g... OMIM:273395
Lumbar Syndrome
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc... ORPHA:83628
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Satoyoshi Syndrome
Amenorrhea, Alopecia, Alopecia universalis, Hypoplasia of the uterus OMIM:600705
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Primary amenorrhea, Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, ... OMIM:146255
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased testicular size, Premature ovarian insufficiency, Micropenis, Hypogona... ORPHA:3464
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Splenomegaly, Infertility, Erectile dysfunction, Hypothyro... ORPHA:465508
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... OMIM:305400
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Increased circulating cortisol level, Medullary thyroid carcinoma, Increased u... ORPHA:99889
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, Diabetes mellitus, Hypoparathyroidism, Septate vagina, Vaginal atresia, U... ORPHA:2237
46,Xy Sex Reversal 4
Agonadism, Hypoplasia of the uterus, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Se... OMIM:154230
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism OMIM:222300
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus, Irregular menstruation, Highly arched ... OMIM:110100
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Bifid uterus, Accessory spleen, Abnormal vagina morphology, Hypospadias OMIM:236680
Cushing Disease
Abnormal libido, Adrenal hyperplasia, Increased circulating ACTH level, Oligomenorrhea, Diabetes ... ORPHA:96253
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Myoectodermal Gonadal Dysgenesis Syndrome
Absent axillary hair, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ... OMIM:618419
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Long eyelashes, Decreased response to growth hormone stimulation test, Hypoplasi... OMIM:615866
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Acromesomelic Dysplasia 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:609441
Popliteal Pterygium Syndrome
Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labia majora, Small scrotum, Bifid scrotum,... OMIM:119500
Oeis Complex
Absent scrotum, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Epispadias, Labial hypopla... OMIM:258040
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Premature ovarian insufficienc... ORPHA:572333
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Limb-Mammary Syndrome
Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Alopecia, Breast aplasia, S... ORPHA:69085
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Highly arched eyebrow, Ovarian cyst, Unicornuate uterus, Sparse eyebrow, Nail dys... OMIM:614527
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Low posterior hairline, Bifid uterus, Sparse eyebrow, Abnormal reproductive... ORPHA:1521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Prostatitis, Epididymitis OMIM:300755
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Abnormal scr... ORPHA:284339
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate u... OMIM:601186
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Ambiguous genitalia, Primary amenorrh... OMIM:201750
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Absent external genitalia, Aplasia of the uterus OMIM:271520
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, En... ORPHA:273
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Cardiac-Urogenital Syndrome
Cryptorchidism, Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Accessory spleen, Bifid... OMIM:618280
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism, Ambiguous genitalia, Low anterior hairline ORPHA:79500
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Synophrys, Sparse eyebrow, H... ORPHA:3063
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Diabetes mellitus, Hypoplasia of the uterus, Epididy... OMIM:137920
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Abnormal hair whorl, Aplasia of the uterus ORPHA:457284
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid penis, Female sexual dysfunction, Penoscrotal transposition, Epispadias, Ab... ORPHA:322
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Micropenis, Aplasia of the uterus OMIM:614083
Linear Skin Defects With Multiple Congenital Anomalies 1
Micropenis, Clitoral hypertrophy, Hypoplasia of the uterus, Ovotestis, Chordee, Hypospadias OMIM:309801
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Pancreatic cysts, Aplasia of the uterus OMIM:274000
Coffin-Siris Syndrome 1
Cryptorchidism, Aplasia of the uterus, Facial hypertrichosis, Long eyelashes, Clitoral hypertroph... OMIM:135900
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Precocious puberty, Low posterior hairline, Highly arched ... OMIM:194190
Okamoto Syndrome
Facial hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Bifid uterus, Hype... ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine rupture, Cystocele, Alopecia of scalp, Uterine pr... OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplasia of the uterus, Hypoplastic nipples, Anteriorly displaced genitalia, Small... OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Absent eyelashes OMIM:256520
Townes-Brocks Syndrome 1
Rectoperineal fistula, Cryptorchidism, Bifid uterus, Hypothyroidism, Bifid scrotum, Rectovaginal ... OMIM:107480
Norrie Disease
Delayed puberty, Cryptorchidism, Diabetes mellitus, Uterine rupture, Erectile dysfunction ORPHA:649
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Abnormal eyelash morphology, Alopecia, Uterine rupture, Abnormality of hair textu... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Cryptorchidism, Sparse anterior scalp hair, Supernumerary nipple, Sparse eyelashes, Alopecia, Lab... OMIM:601803
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(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Acvr1btm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, 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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