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Gene: Gramd1b MGI:1925037

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Gene Summary

Name:
GRAM domain containing 1B
Synonyms:
A930008A22Rik

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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
preweaning lethality, incomplete penetrance Gramd1bem1(IMPC)J HOM   Early adult 0.00
exencephaly Gramd1bem1(IMPC)J HOM E18.5 0.00
abnormal tail morphology Gramd1bem1(IMPC)J HOM E18.5 0.00
unresponsive to tactile stimuli Gramd1bem1(IMPC)J HOM E18.5 0.00
abnormal head shape Gramd1bem1(IMPC)J HOM E18.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral 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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X-ray

XRay Images Forepaw

10 Images

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Gross Morphology Embryo E18.5

Images

17 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Gramd1b 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 Gramd1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... ORPHA:90790
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly ORPHA:1665
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... OMIM:616602
Joubert Syndrome 15
Exencephaly OMIM:614464
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... ORPHA:90796
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis OMIM:618736
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly,... OMIM:218350
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Craniosynostosis 2
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... OMIM:604757
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Exencephaly, Brachycephaly ORPHA:2211
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... ORPHA:99889
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis OMIM:236680
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Cranial asymmetry ORPHA:137634
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Scaphocephaly, Cranial asymmetry OMIM:614886
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Arthrogryposis, Distal, Type 4
Torticollis, Cranial asymmetry OMIM:609128
Holoprosencephaly 7
Frontal bossing, Flat occiput, Alobar holoprosencephaly, Hydrocephalus, Cranial asymmetry, Lobar ... OMIM:610828
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Schimmelpenning-Feuerstein-Mims Syndrome
Cranial asymmetry OMIM:163200
African Trypanosomiasis
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... ORPHA:3385
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Tremor, Hydrocephalus, Cranial asymmetry, Thickened calvaria, Action tremor ORPHA:3455

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 Gramd1b

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 Gramd1b.

No publications found that use IMPC mice or data for Gramd1b.

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
Gramd1btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gramd1bem1(IMPC)J Exon Deletion Mice
Gramd1btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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