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Gene: Arhgap29 MGI:2443818

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Gene Summary

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

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
increased circulating alanine transaminase level Arhgap29em1(IMPC)J HET Early adult 2.72×10-10
abnormal auditory brainstem response Arhgap29em1(IMPC)J HET   Early adult 2.76×10-05
embryonic lethality prior to tooth bud stage Arhgap29em1(IMPC)J HOM   E12.5 0.00
preweaning lethality, complete penetrance Arhgap29em1(IMPC)J HOM   Early adult 0.00
increased circulating aspartate transaminase level Arhgap29em1(IMPC)J HET Early adult 3.38×10-05

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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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 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
Dental malocclusion, Abnormal number of permanent teeth, Agenesis of lateral incisor, Velopharyng... 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 palate, Cleft lip OMIM:600625
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment 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 circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency 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, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Dyskeratosis, Hereditary Benign Intraepithelial
Oral leukoplakia OMIM:127600
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Oral leukoplakia OMIM:615735
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cleft Soft Palate
Cleft soft palate OMIM:119570
Tylosis With Esophageal Cancer
Esophageal carcinoma, Oral leukoplakia OMIM:148500
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Pachyonychia Congenita 1
Oral leukoplakia OMIM:167200
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
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, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Dyskeratosis Congenita, Autosomal Recessive 3
Oral leukoplakia, Squamous cell carcinoma of the tongue OMIM:613988
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2521
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip ORPHA:2736
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529799
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition OMIM:616553
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... OMIM:618779
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Oral leukoplakia, Premature loss of teeth OMIM:616353
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Agenesis of lateral incisor, Velopharyng... ORPHA:199306
Pachyonychia Congenita 2
Oral leukoplakia, Angular cheilitis, Natal tooth OMIM:167210
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Dyskeratosis Congenita, Autosomal Recessive 2
Oral leukoplakia OMIM:613987
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Birk-Barel Syndrome
High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion OMIM:612292
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Oral leukoplakia OMIM:619767
Pachyonychia Congenita 3
Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia OMIM:615726
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia ORPHA:2309
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Orofaciodigital Syndrome Xix
Lobulated tongue, High palate, Narrow palate, Cleft soft palate, Tongue nodules, Microdontia, Hyp... OMIM:620107
Bone Marrow Failure Syndrome 5
Oral leukoplakia OMIM:618165
Achalasia, Familial Esophageal
Xerostomia OMIM:200400
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Cheilitis, Oral leukoplakia OMIM:616295
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Smooth philtrum, Esophageal atresia OMIM:614526
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Oligodontia, Dental crowding, ... OMIM:616331
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Microdontia, Esophageal stricture, Oral leukoplakia OMIM:224230
Hereditary Acrokeratotic Poikiloderma
Gingivitis, Abnormal pigmentation of the oral mucosa, Ankyloglossia, Premature loss of primary te... ORPHA:2907
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Microdontia, Oral leukoplakia OMIM:148210
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Oral leukoplakia, Abnormality of the dentition OMIM:613989
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Hoyeraal-Hreidarsson Syndrome
Oral leukoplakia ORPHA:3322
Kindler Syndrome
Gingivitis, Periodontitis, Esophageal stenosis, Oral leukoplakia, Carious teeth, Anal stenosis OMIM:173650
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Cleft soft palate, Absent uvula, Triangular mouth, Gingival overgrowth, Abnormalit... OMIM:618529
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Dyskeratosis Congenita, Digenic
Oral leukoplakia, Abnormality of the dentition OMIM:620040
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Amish Lethal Microcephaly
Spina bifida, Cleft soft palate ORPHA:99742
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Dyskeratosis Congenita, Autosomal Dominant 1
Premature loss of teeth, Carious teeth, Oral leukoplakia OMIM:127550
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia OMIM:613990
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Hypodontia,... ORPHA:1071
Dyskeratosis Congenita
Periodontitis, Malabsorption, Hypodontia, Taurodontia, Esophageal stenosis, Tracheoesophageal fis... ORPHA:1775
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Revesz Syndrome
Oral leukoplakia OMIM:268130
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Elevated 8(9)-cholestenol, Elevated 8-dehydroc... ORPHA:401973
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Oral leukoplakia OMIM:612199
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Loeys-Dietz Syndrome 5
High palate, Cleft soft palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Tented u... OMIM:615582
Orofaciodigital Syndrome Type 10
Long philtrum, Cleft soft palate, Accessory oral frenulum ORPHA:2756
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751
Cerebrocostomandibular Syndrome
High palate, Cleft soft palate, Pierre-Robin sequence, Long philtrum, Anteriorly placed anus, Cle... OMIM:117650
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:216400
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Familial Mediterranean Fever
Malabsorption, Intestinal obstruction, Oral leukoplakia ORPHA:342
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Thin upper lip vermilion, Na... OMIM:300990
Limb-Mammary Syndrome
Hypodontia, Bifid uvula, Submucous cleft soft palate, Cleft lip, Cleft hard palate, Cleft palate ORPHA:69085
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Cleft soft palate, Wide mouth, Widely spaced teeth, Deep philtrum, Ankyloglossia, Microdontia, Sh... OMIM:619950
Treacher Collins Syndrome 1
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cleft palate OMIM:154500
Dyskeratosis Congenita, X-Linked
Esophageal stricture, Oral leukoplakia, Premature loss of teeth, Carious teeth, Anal mucosal leuk... OMIM:305000
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Gastric varix, Esophageal varix, Unila... OMIM:301068
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Umbilical hernia OMIM:614557
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Downturned corners of mouth, Cleft soft palate, Smooth philtrum OMIM:619321
Blackfan-Diamond Anemia
Adenocarcinoma of the colon, High palate, Cleft soft palate, Cleft lip ORPHA:124
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Supernumerary tooth, Cleft soft palate, Widely spaced teeth ORPHA:268261
Viss Syndrome
High palate, Cleft soft palate, Bifid tongue, Bifid uvula, Macroglossia, Intestinal malrotation, ... OMIM:619472
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Enamel hypoplasia, High palate, Cleft soft palate, Wide mouth, Delayed eruption of teeth, Deep ph... 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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