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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
embryonic growth retardation Gnpda1tm1b(KOMP)Mbp HOM E9.5 0.00
increased neutrophil cell number Gnpda1tm1b(KOMP)Mbp HET Early adult 9.40×10-07
small kidney Gnpda1tm1b(KOMP)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Gnpda1tm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal uterus morphology Gnpda1tm1b(KOMP)Mbp HET Early adult 0.00
abnormal embryo size 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 Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

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

15 Images

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Embryo LacZ

LacZ images wholemount

32 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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Eye Morphology

Images Ophthalmoscopy

9 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Combined SHIRPA and Dysmorphology

Images

2 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
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
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
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Amed Syndrome, Digenic
Acute myeloid leukemia, Hypoplasia of the uterus, Leukopenia, Anemia, Thrombocytopenia OMIM:619151
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci... OMIM:146255
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur... ORPHA:90793
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... ORPHA:289548
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Hydronephrosis,... ORPHA:2237
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia OMIM:617914
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Meckel Syndrome 12
Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia OMIM:616258
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Oeis Complex
Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... OMIM:258040
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal... OMIM:614527
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia ORPHA:54251
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Renal Cysts And Diabetes Syndrome
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... OMIM:137920
Microphthalmia, Syndromic 9
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hypoplasia of the uter... OMIM:601186
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Micropenis, Anemia OMIM:614083
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia ORPHA:293173
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... ORPHA:322
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Meckel Syndrome 14
Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Eosinophilia, Thrombocytopenia, Leukocytosis, Horseshoe kidney, Hepatosplen... OMIM:274000
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, ... OMIM:618419
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Apla... OMIM:618280
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junc... ORPHA:2729
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... ORPHA:3464
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus... OMIM:135900
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... OMIM:107480
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Abnormal vagina morphology, Hydronephrosis OMIM:236680
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia OMIM:130050
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... ORPHA:286
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the ... 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
Epididymis - MPATH pathological process term hypospermia Gnpda1tm1b(KOMP)Mbp HET Early adult
Testis - MPATH pathological process term spermatogenesis defect Gnpda1tm1b(KOMP)Mbp HET Early adult
Thyroid - MPATH pathological process term hypertrophy Gnpda1tm1b(KOMP)Mbp HET Early adult
Thyroid - MPATH pathological process term extracellular matrix deposition Gnpda1tm1b(KOMP)Mbp HET Early adult
Testis - MPATH pathological process term dysplasia 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

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
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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