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Gene: Gnpda1 MGI:1347054

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Gene Summary

Name:
glucosamine-6-phosphate deaminase 1
Synonyms:
Gnpi,  glucose-6-phosphate isomerase,  Gnp1,  oscillin

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 Gnpda1tm1b(KOMP)Mbp HOM   E12.5 0.00
abnormal uterus morphology Gnpda1tm1b(KOMP)Mbp HET Early adult 0.00
abnormal embryo size Gnpda1tm1b(KOMP)Mbp HOM E9.5 0.00
increased neutrophil cell number Gnpda1tm1b(KOMP)Mbp HET Early adult 9.50×10-07
small kidney Gnpda1tm1b(KOMP)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Gnpda1tm1b(KOMP)Mbp HOM   Early adult 0.00
embryonic growth retardation Gnpda1tm1b(KOMP)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 4)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 4)
Embryo N/A heterozygote 100% (4 of 4)
Eye N/A heterozygote 50% (2 of 4)
Footplate N/A heterozygote 0.0% (0 of 4)
Forebrain N/A heterozygote 0.0% (0 of 4)
Forelimb N/A heterozygote 0.0% (0 of 4)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 4)
Head N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 50% (2 of 4)
Hindbrain N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Mandibular process N/A heterozygote 0.0% (0 of 4)
Maxillary process N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 4)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 4)
Tail N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Eye Morphology

Images Ophthalmoscopy

9 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Embryo LacZ

LacZ images wholemount

32 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Hind Leg and Hip

15 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Histopathology

Images

5 Images

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Human diseases caused by Gnpda1 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 Gnpda1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... OMIM:612965
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... OMIM:273250
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... ORPHA:168563
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... ORPHA:99429
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Ovarian Dysgenesis 6
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:618078
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus OMIM:601076
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Thrombocytopenia, Hypoplasia of the uterus OMIM:619151
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614841
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Hematuria, Distal renal tubular acidosis, Proximal renal tu... OMIM:146255
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:300510
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Aplasia of the uterus, Horse... ORPHA:3109
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Lumbar Syndrome
Vesicoureteral reflux, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus... ORPHA:83628
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... ORPHA:3226
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Bifid scrotum, Bil... ORPHA:90793
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal urine potassium concentration, Midshaft hypospadias, Sex rever... ORPHA:168558
46,Xy Sex Reversal 4
Hydronephrosis, Sex reversal, Hypoplastic labia majora, Agonadism, Ureteropelvic junction obstruc... OMIM:154230
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal urine potassium concentration, Midshaft hypospadias, Sex rever... ORPHA:289548
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Vaginal atresia, A... ORPHA:2237
Townes-Brocks Syndrome 2
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Satoyoshi Syndrome
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... ORPHA:3130
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus OMIM:617914
Meckel Syndrome 12
Renal hypoplasia, Vaginal atresia, Ureteral hypoplasia, Hypoplasia of the uterus OMIM:616258
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Abnormal testis morphology, Liver abscess, Neutrophilia ORPHA:54251
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Ambiguous genita... OMIM:258040
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Unilateral rena... OMIM:614527
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy... ORPHA:432
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus ORPHA:247768
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Perrault Syndrome 4
Bicornuate uterus, Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:615300
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney ORPHA:3320
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, Glycosuria, Unilateral r... OMIM:137920
Microphthalmia, Syndromic 9
Hydronephrosis, Bicornuate uterus, Multilobulated spleen, Pelvic kidney, Horseshoe kidney, Crypto... OMIM:601186
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... OMIM:202010
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... ORPHA:90796
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina, Hydron... OMIM:271520
Fanconi Anemia, Complementation Group L
Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Micropenis OMIM:614083
Exstrophy-Epispadias Complex
Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Absent penis, Bifid scrotum, Peno... ORPHA:322
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia... ORPHA:90794
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Thrombocytopenia-Absent Radius Syndrome
Vesicoureteral reflux, Anemia, Hepatosplenomegaly, Aplasia of the uterus, Horseshoe kidney, Leuko... OMIM:274000
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... ORPHA:284339
Popliteal Pterygium Syndrome
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... OMIM:119500
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplastic labia majora, Unilateral renal agenesis, Clitoral hypoplasia, Accessory spleen, Gonad... OMIM:618419
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Unilateral cryptorchidism, A... OMIM:618280
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee OMIM:309801
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Hypo... OMIM:241080
Woodhouse-Sakati Syndrome
Abnormal spermatogenesis, Hypogonadism, Decreased testicular size, Hypoplasia of the fallopian tu... ORPHA:3464
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Ureteropelvic junction obstruction, Unilateral renal hypoplas... ORPHA:2729
Townes-Brocks Syndrome 1
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal insufficiency, Bifid scrotum, Rectoper... OMIM:107480
Coffin-Siris Syndrome 1
Hydroureter, Ectopic kidney, Aplasia of the uterus, Hypospadias, Cryptorchidism, Renal hypoplasia... OMIM:135900
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Labial hypoplasia,... OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Cervical insufficiency, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse OMIM:130050
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Bifid uterus, Hypospadias, Accessory spleen, Hydronephrosis OMIM:236680
Wolf-Hirschhorn Syndrome
Precocious puberty, Aplasia of the uterus, Hypospadias, Accessory spleen, Cryptorchidism OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Small scrotum OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Bladder diverticulum, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse, ... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Pallister-Killian Syndrome
Labial hypoplasia, Aplasia of the upper vagina, Hypoplastic labia majora, Renal cyst, Aplasia of ... 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.

Phenotype Allele Zygosity Sex Life Stage
Thyroid - MPATH pathological process term extracellular matrix deposition Gnpda1tm1b(KOMP)Mbp HET Early adult
Thyroid - MPATH pathological process term hypertrophy Gnpda1tm1b(KOMP)Mbp HET Early adult
Testis - MPATH pathological process term dysplasia Gnpda1tm1b(KOMP)Mbp HET Early adult
Testis - MPATH pathological process term spermatogenesis defect Gnpda1tm1b(KOMP)Mbp HET Early adult
Epididymis - MPATH pathological process term hypospermia Gnpda1tm1b(KOMP)Mbp HET Early adult

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 Gnpda1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Gnpda1tm1b(KOMP)Mbp PMC8163790

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MGI Allele Allele Type Produced
Gnpda1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gnpda1tm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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