Gene Summary

Name:
GRAM domain containing 1B
Synonyms:
A930008A22Rik

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
preweaning lethality, incomplete penetrance Gramd1bem1(IMPC)J HOM   Early adult 0.00
abnormal tail morphology Gramd1bem1(IMPC)J HOM E18.5 0.00
exencephaly Gramd1bem1(IMPC)J HOM E18.5 0.00
abnormal head shape Gramd1bem1(IMPC)J HOM E18.5 0.00
increased grip strength Gramd1bem1(IMPC)J HET Early adult 2.84×10-05
unresponsive to tactile stimuli Gramd1bem1(IMPC)J HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

Gross Morphology Embryo E18.5

Images

12 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:300064
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556037
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Diabetes mel... OMIM:615830
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Glucocorticoid Deficiency 5
Abnormal response to ACTH stimulation test, Decreased circulating cortisol level OMIM:617825
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556030
Primary Pigmented Nodular Adrenocortical Disease
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus ORPHA:189439
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Brachycephaly, Trigonocephaly, Prominent metopic ridge OMIM:275595
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Macronodular adrenal hyperplasia ORPHA:189427
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Isolated Brachycephaly
Midface retrusion, Brachycephaly ORPHA:35099
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency OMIM:201400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Gómez-López-Hernández Syndrome
Midface retrusion, Brachycephaly, Hydrocephalus, Turricephaly ORPHA:1532
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Macroorchidism, Incre... ORPHA:90790
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Flat occiput, Brachycephaly, Plagiocephaly ORPHA:2898
Adenylosuccinate Lyase Deficiency
Flat occiput, Brachycephaly, Prominent metopic ridge ORPHA:46
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Abnormal circulating renin, Adrenal hyperplasia, Hyperaldosteronism ORPHA:369929
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Isolated Plagiocephaly
Midface retrusion, Frontal bossing, Plagiocephaly ORPHA:35098
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Brachytu... OMIM:604757
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly ORPHA:1665
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Craniosynostosis And Dental Anomalies
Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostosis, Trigonocephaly, Brachyc... OMIM:614188
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Delayed cranial suture closure, Brachycephaly, Spina bifida occu... OMIM:616602
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Flat occiput, Brachyceph... OMIM:618736
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Cushing Disease
Adrenal hyperplasia, Premature ovarian insufficiency, Diabetes mellitus, Pituitary adenoma ORPHA:96253
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:90796
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Potocki-Shaffer Syndrome
Wormian bones, Parietal foramina, Brachycephaly, Turricephaly OMIM:601224
Craniofacial Dyssynostosis With Short Stature
Abnormal shape of the occiput, Frontal bossing, Midface retrusion, Brachycephaly, Brachyturriceph... OMIM:218350
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Increased circulating corticosterone ... ORPHA:95699
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly OMIM:614416
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Midface retrusion, Unilambdoid synostosis, Plagiocephaly, Brachycephaly, Hydrocephalus OMIM:618577
Cebalid Syndrome
Midface retrusion, Platystencephaly, Plagiocephaly, Brachycephaly, Dolichocephaly, Turricephaly OMIM:618774
Chromosome 3Q13.31 Deletion Syndrome
Dolichocephaly, Brachycephaly, Alobar holoprosencephaly, Plagiocephaly OMIM:615433
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati... ORPHA:320
Craniosynostosis 4
Posterior plagiocephaly, Pansynostosis, Lambdoidal craniosynostosis, Frontal bossing, Anterior pl... OMIM:600775
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Large fontanelles, Flat occiput, Delayed cranial suture closure, Brachycephaly ORPHA:2211
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Crouzon Disease
Frontal bossing, Midface retrusion, Brachycephaly, Multiple suture craniosynostosis, Hydrocephalu... ORPHA:207
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachycephaly, Thin calvarium OMIM:122900
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Spina bifida occulta ORPHA:1514
Congenital Muscular Dystrophy, Fukuyama Type
Dolichocephaly, Brachycephaly, Hydrocephalus, Plagiocephaly ORPHA:272
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Brachycephaly, Hydrocephalus, Turricephaly ORPHA:93262
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Frontal bossing, Plagiocephaly OMIM:619264
Muenke Syndrome
Brachycephaly, Hydrocephalus, Coronal craniosynostosis, Plagiocephaly ORPHA:53271
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing ORPHA:314575
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Trigonocephaly, Plagiocephaly OMIM:618265
Cdags Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Parietal foramina, Sagittal cran... OMIM:603116
Humeroradial Synostosis With Craniofacial Anomalies
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:236410
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Hydrocephalus, Scaphocephaly,... OMIM:614886
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:2163
Osteopathia Striata-Cranial Sclerosis Syndrome
Large fontanelles, Frontal bossing, Thickened calvaria, Flat occiput, Delayed cranial suture clos... ORPHA:2780
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Familial Lambdoid Synostosis
Flat occiput, Hydrocephalus, Plagiocephaly ORPHA:3267
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Wide anterior fontanel, Frontal bossing, Midface retrusion, Brachyce... OMIM:207410
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis OMIM:236680
Pfeiffer Syndrome Type 1
Midface retrusion, Bicoronal synostosis, Brachycephaly, Aqueductal stenosis ORPHA:93258
Crouzon Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Brachycephaly, Sagittal craniosynostosis, Coronal c... OMIM:123500
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Cranial asymmetry ORPHA:137634
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Wide anterior fontanel, Frontal bossing, Large posterior fontanelle, Parietal foramina, Plagiocep... ORPHA:85199
Humeroradial Synostosis
Brachycephaly OMIM:236400
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia ORPHA:79500
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Schimmelpenning-Feuerstein-Mims Syndrome
Cranial asymmetry OMIM:163200
Opitz Gbbb Syndrome, Type Ii
Frontal bossing, Craniosynostosis, Umbilical hernia, Cranial asymmetry OMIM:145410
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Abnormality of circulatin... ORPHA:3385
Wiedemann-Rautenstrauch Syndrome
Tremor, Frontal bossing, Thickened calvaria, Action tremor, Widely patent fontanelles and sutures... 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.

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MGI Allele Allele Type Produced
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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