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Gene: Dop1a MGI:1289294

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Gene Summary

Name:
DOP1 leucine zipper like protein A
Synonyms:
B130005I07Rik,  Dopey1,  D9Ertd809e

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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
small uterus Dop1aem1(IMPC)Tcp HOM Early adult 0.00
decreased mean corpuscular hemoglobin Dop1aem1(IMPC)Tcp HOM Early adult 6.01×10-10
abnormal skin morphology Dop1aem1(IMPC)Tcp HOM Early adult 0.00
persistence of hyaloid vascular system Dop1aem1(IMPC)Tcp HOM   Early adult 9.95×10-05
abnormal mammary gland morphology Dop1aem1(IMPC)Tcp HOM Early adult 0.00

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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.

Eye Morphology

Images Ophthalmoscopy

110 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Dop1a 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 Dop1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism OMIM:300510
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypoplasia of the uterus OMIM:619151
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... OMIM:277000
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo... ORPHA:3130
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... OMIM:613673
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Methemoglobinemia, Male pseudoherm... OMIM:250790
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin... OMIM:620501
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadi... ORPHA:848
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Non-obstructive azoospermia, Decreased testicular size, Azoo... ORPHA:432
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Satoyoshi Syndrome
Alopecia, Alopecia universalis, Hypoplasia of the uterus OMIM:600705
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated... OMIM:273250
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Bico... OMIM:615300
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... ORPHA:99429
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia OMIM:617914
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse body hair, Decreased te... ORPHA:90796
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
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
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreased mean co... OMIM:616943
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp... ORPHA:231222
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse p... OMIM:618419
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Hypospadias ORPHA:98791
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Hirsutism, Aplasia of the uterus, Abnormal ... OMIM:158330
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Clitoral hypertrophy, Pigmentary retinopathy, Ovotestis, Chordee, Micropenis, Hypo... OMIM:309801
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Microphthalmia/Coloboma 12
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypopl... OMIM:241080
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglob... OMIM:617052
Microphthalmia, Syndromic 9
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... OMIM:601186
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Woodhouse-Sakati Syndrome
Alopecia, Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulati... ORPHA:3464
Blepharophimosis, Ptosis, And Epicanthus Inversus
Sparse pubic hair, Highly arched eyebrow, Hypoplasia of the uterus, Increased circulating gonadot... OMIM:110100
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormality of the male genitalia, Abnormal hemoglobin, Cryptorchidism, Male pseud... ORPHA:847
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Elevated circulating luteinizing hormone level,... ORPHA:90793
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas deferens, Epididymal cyst, Hypoplasia of t... OMIM:137920
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus... OMIM:146255
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia,... ORPHA:572333
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Prostate neoplasm ORPHA:99867
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Cryptorchidism, Hypochromic microcytic anemia, Shawl scrotum, Micropenis, Reduced... OMIM:301040
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lead Poisoning
Imbalanced hemoglobin synthesis, Oligozoospermia, Abnormal T cell morphology, Anemia, Abnormal sp... ORPHA:330015
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Atelis Syndrome 2
Anemia, Thrombocytopenia, Remnants of the hyaloid vascular system OMIM:620185
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the ute... ORPHA:69085
Peters-Plus Syndrome
Iris coloboma, Facial hypertrichosis, Retinal coloboma, Cryptorchidism, Hypoplastic labia majora,... OMIM:261540
Peters Plus Syndrome
Hypospadias, Optic atrophy, Cryptorchidism, Hypoplasia of the uterus, Iris coloboma, Anterior hyp... ORPHA:709
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... ORPHA:2237
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Supernumerary nipple, Abnormal reproductive system morphology, Low posterior hair... ORPHA:1521
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Thick eyebrow, Cryptorchidism, Laterally curved eyebrow, Retinal det... OMIM:300166
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of... ORPHA:284339
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Frontal balding, Decreased testi... ORPHA:90794
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Pierson Syndrome
Retinal hemorrhage, Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular sy... OMIM:609049
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Hypertrichosis, Cryptorchidism, Ovarian cyst, Aplasia of t... OMIM:614527
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Abnormal hair whorl, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Fanconi Anemia, Complementation Group L
Anemia, Aplasia of the uterus, Micropenis OMIM:614083
Neuroocular Syndrome 1
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Distichiasis, Remnants of the hyaloid vascu... OMIM:619539
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism, Retinal detachment, Remnants of the hyaloid vascu... ORPHA:649
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Alkaptonuria
Methemoglobinemia, Prostatitis, Hemolytic anemia, Black pigment gallstones ORPHA:56
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Aplasia of the uterus, Eosinophilia, Thrombocytopenia, Anemia, ... OMIM:274000
Holoprosencephaly 2
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Cyc... OMIM:157170
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... OMIM:618280
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Alopecia of scalp, Cryptorchidism, Uterine prolapse, Anemia, Cervical... OMIM:130050
Wolf-Hirschhorn Syndrome
Accessory spleen, Precocious puberty, Iris coloboma, Highly arched eyebrow, Cryptorchidism, Low p... OMIM:194190
Exstrophy-Epispadias Complex
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... ORPHA:322
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Hypertrichosis, Long eyelashes, Thick eyeb... OMIM:135900
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus, Hypospadias OMIM:236680
Okamoto Syndrome
Facial hypertrichosis, Hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Sp... ORPHA:2729
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Townes-Brocks Syndrome 1
Bifid scrotum, Chorioretinal coloboma, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Recto... OMIM:107480
Neu-Laxova Syndrome 1
Bifid uterus, Absent eyelashes, Cryptorchidism OMIM:256520
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

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 Dop1a

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 Dop1a.

No publications found that use IMPC mice or data for Dop1a.

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MGI Allele Allele Type Produced
Dop1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dop1aem1(IMPC)Tcp Exon Deletion Mice
Dop1atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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