Gene Summary

Name:
tubulin epsilon and delta complex 1
Synonyms:
4930427A07Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart looping Tedc1em1(IMPC)Tcp HOM E9.5 0.00
abnormal uterus morphology Tedc1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Tedc1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal heart morphology Tedc1em1(IMPC)Tcp HOM E9.5 0.00
enlarged lymph nodes Tedc1em1(IMPC)Tcp HET Early adult 0.00
increased blood urea nitrogen level Tedc1em1(IMPC)Tcp HET Early adult 1.12×10-05
embryonic growth retardation Tedc1em1(IMPC)Tcp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Tedc1em1(IMPC)Tcp HOM   E15.5 0.00
abnormal embryo size Tedc1em1(IMPC)Tcp HOM E9.5 0.00
embryonic growth retardation Tedc1em1(IMPC)Tcp HET E9.5 0.00
abnormal skin morphology Tedc1em1(IMPC)Tcp HET Early adult 0.00

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Viewing: all phenotypes

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.

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

12 Images

Eye Morphology

Images Ophthalmoscopy

97 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

Gross Morphology Embryo E9.5

Images

35 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

OPT E9.5

Embryo reconstruction

7 Images

Histopathology

Images

4 Images

Human diseases caused by Tedc1 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 Tedc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia OMIM:620085
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypergonadotropic h... OMIM:617872
46,Xy Sex Reversal 4
Agonadism, Hypoplasia of the uterus, Increased blood urea nitrogen, Hypoplastic labia majora, Hyp... OMIM:154230
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... OMIM:612965
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Burkitt Lymphoma
Abnormality of the ovary, Abnormal lymph node morphology, Hyperuricemia, Abnormality of the spleen ORPHA:543
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Abnormal internal geni... OMIM:273250
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Leydig Cell Hypoplasia
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... ORPHA:755
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Increased blood urea nitrogen, Hypomagnesemia OMIM:613845
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
46,Xy Sex Reversal 7
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of female internal ... ORPHA:754
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular dysgenesis, Hypoplasi... ORPHA:168563
Diethylstilbestrol Syndrome
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... ORPHA:1916
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Micropenis, Ambiguous genitalia, Fused labia majora, Clitoral hypertrophy, ... ORPHA:90797
Testicular Agenesis
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... ORPHA:325124
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Aplasia of the thymus, Genital ulcers, Lymph node hy... OMIM:602450
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:235400
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Hypoplasia of the... OMIM:614841
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Cockayne Syndrome Type 1
Male hypogonadism, Cryptorchidism, Increased blood urea nitrogen ORPHA:90321
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Varicocele, Elevated circulating C-reactive protein concentration,... ORPHA:49041
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Increased circulating guanosine concentration, Hypou... OMIM:613179
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Vaginal Atresia
Uterus didelphys, Cervicitis, Imperforate hymen, Transverse vaginal septum, Vaginal atresia, Abno... ORPHA:65681
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypoplasia of the uterus, Azoospermia, Hyp... OMIM:614837
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis OMIM:266810
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Micropenis, Ambiguous genitalia, male, Precocious puberty in females, Female external genitalia i... ORPHA:90793
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Increased circulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Increased circulating... ORPHA:289548
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased testicular size, Hypoplasia of the vagina, Clitoral hypertrophy, Hypoplasia of the uter... OMIM:202010
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Lumbar Syndrome
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc... ORPHA:83628
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Satoyoshi Syndrome
Mildly elevated creatine kinase, Hypoplasia of the uterus OMIM:600705
Amed Syndrome, Digenic
Bone marrow hypocellularity, Hypoplasia of the uterus OMIM:619151
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Septate vagina, Vaginal atresia, Hypocalcemia, Uterus didelphys, Aplasia o... ORPHA:2237
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys OMIM:146255
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Hypoplasia of the... ORPHA:432
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Testicular adrenal rest tumor, Decreased testicular size, Hypochloremia, Ambiguous genitalia, Fus... ORPHA:90794
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Micropenis, Hypoplasia of the vagina, Ambiguous genita... ORPHA:90796
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Oeis Complex
Absent scrotum, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Epispadias, Labial hypopla... OMIM:258040
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Prostatitis, Epididymitis OMIM:300755
Popliteal Pterygium Syndrome
Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labia majora, Small scrotum, Bifid scrotum,... OMIM:119500
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Hypoplasia of the uterus, Epididymal cyst, Elevated circulating creatinine concent... OMIM:137920
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus... OMIM:241080
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate u... OMIM:601186
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Absent external genitalia, Aplasia of the uterus OMIM:271520
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Abnormal scr... ORPHA:284339
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Hypogonadism, Hypoplasia of the fallopian tube, Hypoplasia... ORPHA:3464
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Micropenis, Aplasia of the uterus OMIM:614083
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Hypoplastic labia majora, Clitoral hypoplasia, Accessory spleen, Gonada... OMIM:618419
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Aplasia of the vagina, Aplasia of the uterus OMIM:614527
Cardiac-Urogenital Syndrome
Cryptorchidism, Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Accessory spleen, Bifid... OMIM:618280
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
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, Aplasia of the uterus OMIM:274000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Micropenis, Ambiguous genitalia, Fused labia majora, Polycystic ovaries, Clitoral... OMIM:201750
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Absent penis, Bifid uterus, C... ORPHA:322
Limb-Mammary Syndrome
Aplasia of the ovary, Aplasia of the uterus ORPHA:69085
Hydrolethalus Syndrome 1
Accessory spleen, Bifid uterus, Abnormal vagina morphology, Hypospadias OMIM:236680
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Precocious puberty, Accessory spleen, Hypospadias OMIM:194190
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine rupture, Cystocele, Uterine prolapse OMIM:130050
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Hypospadias, Aplasia of the uterus OMIM:135900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Small scrotum, Hypospadias OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Townes-Brocks Syndrome 1
Rectoperineal fistula, Cryptorchidism, Bifid uterus, Bifid scrotum, Rectovaginal fistula, Hypospa... OMIM:107480
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Hypokalemia, Uterine rupture, Cystocele, Uterine prolapse, Hypospadias ORPHA:286
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649
Pallister-Killian Syndrome
Cryptorchidism, Labial hypoplasia, Hypoplastic labia majora, Small scrotum, Hypospadias, Aplasia ... 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 Tedc1

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 Tedc1.

No publications found that use IMPC mice or data for Tedc1.

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
Tedc1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Tedc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tedc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tedc1em1(IMPC)Tcp Deletion Mice

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