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Gene: 2700054A10Rik MGI:1919828

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Gene Summary

Name:
RIKEN cDNA 2700054A10 gene
Synonyms:
N/A

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
anophthalmia 2700054A10Rikem2(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity 2700054A10Rikem2(IMPC)Mbp HOM Early adult 6.43×10-05
small superior vagus ganglion 2700054A10Rikem2(IMPC)Mbp HOM Early adult 0.00
hydrometra 2700054A10Rikem2(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology 2700054A10Rikem2(IMPC)Mbp 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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by 2700054A10Rik 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 2700054A10Rik by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Anencephaly 2
Anophthalmia OMIM:619452
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Anophthalmia ORPHA:411986
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Optic atrophy, Aplasia/Hypopla... ORPHA:3378
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis OMIM:610125
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Cockayne Syndrome Type 2
Anophthalmia, Ataxia, Cryptorchidism, Gait disturbance, Difficulty walking, Male hypogonadism ORPHA:90322
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Abnormality of the uterus, Cryptorchidism ORPHA:2470
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:77298
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia ORPHA:66625
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Anophthalmia, Ataxia, Cryptorchidism, Optic atrophy, Gait di... ORPHA:90321
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Optic atrophy, Microphthalmia ORPHA:899
Trisomy 1Q
Ambiguous genitalia, Cryptorchidism, Anophthalmia, Small scrotum ORPHA:261344
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa... OMIM:206900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Joubert Syndrome 21
Optic atrophy, Anophthalmia, Ataxia, Megalopapilla OMIM:615636
Meckel Syndrome
Anophthalmia, True hermaphroditism, Cryptorchidism, Male pseudohermaphroditism, Optic atrophy, Ap... ORPHA:564
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Fibular Hemimelia
Anophthalmia, Difficulty walking ORPHA:93323
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia OMIM:605627
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Optic atrophy, Microphthalmia ORPHA:2162
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Small scrotum, Cryptorchidism ORPHA:264200
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Cryptorchidism, Anophthalmia ORPHA:1101
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... ORPHA:2556
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Optic a... ORPHA:138
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis OMIM:610829
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula ORPHA:2538
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Bicornuate uterus, Micropeni... OMIM:219000
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Optic atrophy ORPHA:2526
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia, Optic disc coloboma, Microphth... ORPHA:141099
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus OMIM:146255
Focal Dermal Hypoplasia
Anophthalmia, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Labial hypoplasia, Aniridia, Mi... OMIM:305600
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Microphthalmia OMIM:300166
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Microphthalmia With Limb Anomalies
Microphthalmia, Optic atrophy, True anophthalmia, Cryptorchidism ORPHA:1106
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Charge Syndrome
Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, External genital hypoplasia, Cryptorch... OMIM:214800
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microphthalmia OMIM:607932
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Facial palsy, Cryptorchidism, Microphthalmia OMIM:113620
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... ORPHA:284339
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina ORPHA:2237
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Aplasia of the uterus OMIM:614083
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Microphthalmia, Syndromic 1
Anophthalmia, Aganglionic megacolon, Hypospadias, Cryptorchidism, Optic disc coloboma, Microphtha... OMIM:309800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Hydrolethalus Syndrome 1
Microphthalmia, Abnormal vagina morphology, Hypospadias, Bifid uterus OMIM:236680
Norrie Disease
Aplasia/Hypoplasia of the lens, Cryptorchidism, Optic atrophy, Hypoplasia of the iris, Uterine ru... ORPHA:649
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Wolf-Hirschhorn Syndrome
Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus OMIM:194190
Neu-Laxova Syndrome 1
Cryptorchidism, Microphthalmia, Bifid uterus OMIM:256520
Coffin-Siris Syndrome 1
Hypospadias, Cryptorchidism, Gait ataxia, Aplasia of the uterus, Clitoral hypertrophy OMIM:135900
Okamoto Syndrome
Bifid uterus, Abnormally large globe ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Inability to walk, Cryptorchidism, Hypoplastic labia majora, 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 2700054A10Rik

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 2700054A10Rik.

No publications found that use IMPC mice or data for 2700054A10Rik.

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MGI Allele Allele Type Produced
2700054A10Rikem2(IMPC)Mbp Inter-exon deletion Mice, Tissue

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