Gene Summary

Name:
Rho GTPase activating protein 29
Synonyms:
B130017I01Rik,  6720461J18Rik,  C76601,  Parg1

IMPC Data Collections

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, complete penetrance Arhgap29em1(IMPC)J HOM   Early adult 0.00
abnormal auditory brainstem response Arhgap29em1(IMPC)J HET   Early adult 2.58×10-05
embryonic lethality prior to tooth bud stage Arhgap29em1(IMPC)J HOM   E12.5 0.00
increased circulating aspartate transaminase level Arhgap29em1(IMPC)J HET Early adult 3.38×10-05
increased circulating alanine transaminase level Arhgap29em1(IMPC)J HET Early adult 2.72×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Arhgap29 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.

The table below shows human diseases associated to Arhgap29 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306

The table below shows human diseases predicted to be associated to Arhgap29 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
White Sponge Nevus 1
Oral leukoplakia OMIM:193900
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Uvula, Bifid
Bifid uvula OMIM:192100
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Dyskeratosis, Hereditary Benign Intraepithelial
Oral leukoplakia OMIM:127600
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Oral leukoplakia OMIM:615735
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Cleft Soft Palate
Cleft soft palate OMIM:119570
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Tylosis With Esophageal Cancer
Esophageal carcinoma, Oral leukoplakia OMIM:148500
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Pachyonychia Congenita 1
Oral leukoplakia OMIM:167200
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Dyskeratosis Congenita, Autosomal Recessive 3
Oral leukoplakia, Squamous cell carcinoma of the tongue OMIM:613988
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition OMIM:616553
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Premature loss of teeth, Oral leukoplakia OMIM:616353
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Pachyonychia Congenita 2
Natal tooth, Oral leukoplakia, Angular cheilitis OMIM:167210
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula OMIM:612292
Dyskeratosis Congenita, Autosomal Recessive 2
Oral leukoplakia OMIM:613987
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Oral leukoplakia OMIM:619767
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Oral leukoplakia, Angular cheilitis ORPHA:2309
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Bone Marrow Failure Syndrome 5
Oral leukoplakia OMIM:618165
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Cheilitis, Oral leukoplakia, Angular cheilitis OMIM:616295
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Dyskeratosis Congenita, Autosomal Recessive 1
Microdontia, Esophageal stricture, Carious teeth, Oral leukoplakia OMIM:224230
Hereditary Acrokeratotic Poikiloderma
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Xerostomia, Gingivitis,... ORPHA:2907
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Microdontia, Oral leukoplakia, Furrowed tongue OMIM:148210
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... OMIM:618529
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Oral leukoplakia, Abnormality of the dentition OMIM:613989
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Increased blood urea nitrogen, Macrotia, Abno... ORPHA:90321
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Hoyeraal-Hreidarsson Syndrome
Oral leukoplakia ORPHA:3322
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Carious teeth, Gingivitis, Periodontitis, Oral leukoplakia OMIM:173650
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Dyskeratosis Congenita, Digenic
Oral leukoplakia, Abnormality of the dentition OMIM:620040
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia OMIM:613990
Dyskeratosis Congenita, Autosomal Dominant 1
Carious teeth, Premature loss of teeth, Oral leukoplakia OMIM:127550
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Dyskeratosis Congenita
Esophageal stenosis, Malabsorption, Abnormality of the dentition, Carious teeth, Tracheoesophagea... ORPHA:1775
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Revesz Syndrome
Oral leukoplakia OMIM:268130
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Oral leukoplakia OMIM:612199
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... OMIM:117650
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... OMIM:300990
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Familial Mediterranean Fever
Intestinal obstruction, Oral leukoplakia, Malabsorption ORPHA:342
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... OMIM:619950
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Dyskeratosis Congenita, X-Linked
Carious teeth, Esophageal stricture, Premature loss of teeth, Oral leukoplakia, Anal mucosal leuk... OMIM:305000
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Cleft soft palate OMIM:614557
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum OMIM:619321
Diamond-Blackfan Anemia
Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon ORPHA:124
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate ORPHA:268261
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Deep phi... OMIM:619503

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 Arhgap29

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 Arhgap29.

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

Title Journal IMPC Allele PubMed ID
ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions. Journal of dental research (August 2017) Arhgap29em1(IMPC)J PMC5613885

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MGI Allele Allele Type Produced
Arhgap29em1(IMPC)J Exon Deletion Mice
Arhgap29tm44970(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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