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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
preweaning lethality, complete penetrance Acvr1btm1.1(KOMP)Vlcg HOM   Early adult 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
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
abnormal coat/ hair morphology Acvr1btm1.1(KOMP)Vlcg HET Early adult 2.49×10-05

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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.

X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

16 Images

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Eye Morphology

Images Slit Lamp

5 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Gross Pathology and Tissue Collection

Images

10 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.

No human diseases associated to this gene by orthology or annotation.

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
Ambiguous genitalia, Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology, Infertility OMIM:136580
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... OMIM:300510
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Primary amenorrhea, Aplasia of the uterus, Elevated circulating follicl... OMIM:273250
Ovarian Dysgenesis 6
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... OMIM:618078
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Androgen Insensitivity Syndrome
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, De... ORPHA:754
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri... OMIM:202110
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Sparse axillar... ORPHA:99429
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... OMIM:612964
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Ovarian Dysgenesis 7
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus OMIM:618117
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
Absent scrotum, Ambiguous genitalia, Scrotal hypospadias, Elevated circulating 17-hydroxyprogeste... OMIM:201810
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... OMIM:202010
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypospadias, Adrenal hyperplasia OMIM:201910
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Autoimmune Polyendocrinopathy Type 1
Alopecia, Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal ... ORPHA:3453
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Hirsutism, Primary a... OMIM:158330
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Premature Ovarian Failure 3
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus OMIM:608996
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Di... OMIM:615830
Perrault Syndrome 3
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Pri... OMIM:614129
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... ORPHA:404
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... ORPHA:90790
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Nodular goiter, Follicular thyroid carcinoma, Chronic noninfectio... ORPHA:319487
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Papillary ... ORPHA:97290
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Clitoral hypertrophy, Congenital adrenal hy... ORPHA:96181
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Sparse body hair, Impotence, Absence of secondary sex ch... ORPHA:432
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... ORPHA:247768
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology ORPHA:482
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormality of the ovary, Alopecia universalis, Abnormality of the ut... ORPHA:3130
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Generalized lymphadenopathy, Alopecia of scalp, Absent tonsils, Lymph node hypopl... OMIM:602450
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Alopecia, Increased circulating cortisol level, Type II diabetes mellitus... ORPHA:189439
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Hemochromatosis, Type 1
Alopecia, Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogon... OMIM:235200
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible primary hyperal... ORPHA:251274
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... OMIM:194072
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy, Bone marrow hypocellularity OMIM:613987
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia OMIM:613677
Estrogen Resistance Syndrome
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... ORPHA:785
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macro... ORPHA:189427
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Decreased circulating ACTH level, Increased urinary cortisol le... OMIM:615954
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus OMIM:266810
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis, Sex reversal, Ovotestis OMIM:611812
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Amed Syndrome, Digenic
Bone marrow hypocellularity, Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Myotonic Dystrophy 1
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism OMIM:160900
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... ORPHA:65681
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, A... ORPHA:369929
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular si... OMIM:241080
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal... ORPHA:231580
Bone Marrow Failure Syndrome 5
Testicular atrophy, Nail dystrophy, Hypogonadism OMIM:618165
Tetraamelia Syndrome 1
Urethral atresia, Asplenia, Adrenal gland agenesis, Absent external genitalia, Vaginal atresia, H... OMIM:273395
Lumbar Syndrome
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... ORPHA:83628
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Satoyoshi Syndrome
Alopecia, Alopecia universalis, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag... OMIM:146255
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... ORPHA:465508
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Widow's peak, Decreased serum testosterone concentration... OMIM:305400
Seckel Syndrome 7
Central hypothyroidism, Primary amenorrhea, Hypoplasia of the uterus OMIM:614851
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoi... ORPHA:99889
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diabetes mellitus, Hypoparathyroi... ORPHA:2237
46,Xy Sex Reversal 4
Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen... OMIM:154230
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating... OMIM:110100
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Adrenal gland dysgenesis, Accessory spleen, Abnormal vagina morphology OMIM:236680
Cushing Disease
Pituitary corticotropic cell adenoma, Sparse scalp hair, Increased circulating cortisol level, Se... ORPHA:96253
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Myoectodermal Gonadal Dysgenesis Syndrome
Sparse eyebrow, Frontal upsweep of hair, Hypoplastic labia majora, Clitoral hypoplasia, Sparse pu... OMIM:618419
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Decreased response to growth hormone stimulation test, Long eyelashes, Delayed... OMIM:615866
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... OMIM:609441
Popliteal Pterygium Syndrome
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... OMIM:119500
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... OMIM:258040
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... ORPHA:572333
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Sparse eyebrow, Aplasia of the uterus, Nail dystrophy, Urethral stenosis, Cry... OMIM:614527
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the ute... ORPHA:69085
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Low ... ORPHA:1521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Agammaglobulinemia, X-Linked
Epididymitis, Lymph node hypoplasia, Prostatitis OMIM:300755
Microphthalmia, Syndromic 9
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... OMIM:601186
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... ORPHA:284339
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus OMIM:271520
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... OMIM:201750
Steinert Myotonic Dystrophy
Decreased fertility, Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulation... ORPHA:273
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Doors Syndrome
Congenital hypothyroidism, Ambiguous genitalia, Low anterior hairline, Adrenal hyperplasia ORPHA:79500
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Synophrys, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryp... ORPHA:3063
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... OMIM:137920
Exstrophy-Epispadias Complex
Female sexual dysfunction, Absent penis, Bifid scrotum, Penoscrotal transposition, Male sexual dy... ORPHA:322
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Abnormal hair whorl ORPHA:457284
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Unilateral cryptorchidism, Aplasia of the uterus, Penoscrotal... OMIM:618280
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis, Bone marrow hypocellularity OMIM:614083
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee OMIM:309801
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly OMIM:274000
Coffin-Siris Syndrome 1
Dry hair, Lumbosacral hirsutism, Sparse scalp hair, Long eyelashes, Aplasia of the uterus, Hyposp... OMIM:135900
Wolf-Hirschhorn Syndrome
Precocious puberty, Aplasia of the uterus, Hypospadias, Accessory spleen, Cryptorchidism, Low pos... OMIM:194190
Okamoto Syndrome
Splenomegaly, Extension of hair growth on temples to lateral eyebrow, Bifid uterus, Facial hypert... ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Uterine rupture, Alopecia of scalp, Cryptorchidism, Cystocele, Uterine pr... OMIM:130050
Townes-Brocks Syndrome 1
Hypothyroidism, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, ... OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Hypoplastic n... OMIM:276820
Neu-Laxova Syndrome 1
Absent eyelashes, Bifid uterus, Cryptorchidism OMIM:256520
Norrie Disease
Uterine rupture, Erectile dysfunction, Diabetes mellitus, Delayed puberty, Cryptorchidism ORPHA:649
Vascular Ehlers-Danlos Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Uterine rupture, Hypospadias, Cryptorchidism, Cystoc... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Sparse eyebrow, Alopecia, Sparse scalp hair, Labial hypoplasia, Aplasia of the upper vagina, Hypo... OMIM:601803

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.

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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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