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

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 Whole Body Dorso Ventral

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Forepaw

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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, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... 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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Syngnathia
Cleft palate OMIM:119550
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
White Sponge Nevus 1
Oral leukoplakia OMIM:193900
Uvula, Bifid
Bifid uvula OMIM:192100
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Dyskeratosis, Hereditary Benign Intraepithelial
Oral leukoplakia OMIM:127600
Cleft Soft Palate
Cleft soft palate OMIM:119570
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Oral leukoplakia OMIM:615735
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Tylosis With Esophageal Cancer
Esophageal carcinoma, Oral leukoplakia OMIM:148500
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Pachyonychia Congenita 1
Oral leukoplakia OMIM:167200
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Dyskeratosis Congenita, Autosomal Recessive 3
Oral leukoplakia, Squamous cell carcinoma of the tongue OMIM:613988
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Hypokalemic Tubulopathy And Deafness
Sensorineural hearing impairment, Increased circulating renin level OMIM:619406
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Dyskeratosis Congenita, Autosomal Dominant 6
Abnormality of the dentition, Oral leukoplakia, Esophageal stenosis OMIM:616553
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Increased circulating ferritin concent... ORPHA:3240
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Oral leukoplakia, Premature loss of teeth OMIM:616353
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level OMIM:610600
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Pachyonychia Congenita 2
Angular cheilitis, Natal tooth, Oral leukoplakia OMIM:167210
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Orofaciodigital Syndrome Xix
Carious teeth, Downturned corners of mouth, Cleft soft palate, Narrow mouth, Accessory oral frenu... OMIM:620107
Dyskeratosis Congenita, Autosomal Recessive 2
Oral leukoplakia OMIM:613987
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Oral leukoplakia OMIM:619767
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum OMIM:612292
Pachyonychia Congenita 3
Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip OMIM:615726
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Pachyonychia Congenita
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth ORPHA:2309
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis OMIM:620133
Bone Marrow Failure Syndrome 5
Oral leukoplakia OMIM:618165
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Umbilical hern... OMIM:616331
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Cheilitis, Oral leukoplakia OMIM:616295
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Open bite, Ankylog... ORPHA:2907
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Oral leukoplakia, Esophageal stricture, Microdontia OMIM:224230
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula... OMIM:618529
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Oral leukoplakia, Microdontia OMIM:148210
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Oral leukoplakia, Esophageal stricture OMIM:613989
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Hoyeraal-Hreidarsson Syndrome
Oral leukoplakia ORPHA:3322
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Kindler Syndrome
Anal stenosis, Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis, Esophageal stenosis OMIM:173650
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Dyskeratosis Congenita, Digenic
Abnormality of the dentition, Oral leukoplakia OMIM:620040
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Dyskeratosis Congenita, Autosomal Dominant 1
Carious teeth, Oral leukoplakia, Premature loss of teeth OMIM:127550
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Cree Impaired Intellectual Development Syndrome
Cleft soft palate OMIM:606851
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Dyskeratosis Congenita
Abnormality of the dentition, Carious teeth, Periodontitis, Oral leukoplakia, Taurodontia, Hypodo... ORPHA:1775
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia, Esophageal stricture OMIM:613990
Loeys-Dietz Syndrome 5
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat... OMIM:615582
Mend Syndrome
Low-set ears, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal auditory evoked ... ORPHA:401973
Orofaciodigital Syndrome Type 10
Cleft soft palate, Long philtrum, Accessory oral frenulum ORPHA:2756
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:216400
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Oral leukoplakia OMIM:612199
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate ORPHA:293725
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Anteriorly placed anus, Long philtrum, Cleft soft palate... OMIM:117650
Revesz Syndrome
Oral leukoplakia OMIM:268130
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucous cleft hard palat... OMIM:300990
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Submucous cleft soft palate, Hypodontia, Cleft hard palate, Cleft palate ORPHA:69085
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Cleft soft palate, Increased overb... OMIM:620450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C... OMIM:619950
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate OMIM:154500
Dyskeratosis Congenita, X-Linked
Carious teeth, Oral leukoplakia, Anal mucosal leukoplakia, Esophageal stricture, Premature loss o... OMIM:305000
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Familial Mediterranean Fever
Oral leukoplakia, Intestinal obstruction ORPHA:342
Hardikar Syndrome
Unilateral cleft lip, Umbilical hernia, Intestinal malrotation, Cleft soft palate, Bilateral clef... 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, Smooth philtrum, Cleft soft palate, Downturned corners of mouth OMIM:619321
Diamond-Blackfan Anemia
Adenocarcinoma of the colon, Cleft lip, High palate, Cleft soft palate ORPHA:124
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Supernumerary tooth, Cleft soft palate, Widely spaced teeth, Pyloric stenosis ORPHA:268261
Viss Syndrome
High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Umbilical hernia, Intestinal malro... OMIM:619472
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Agenesis of permanent te... OMIM:619503
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Tooth malposition, Dental crowding, Delayed... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Submucous cleft of soft and hard palate, Tooth malposition, Dental crowding, Delayed... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Submucous cleft of soft and hard palate, Tooth malposition, Dental crowding, Delayed... ORPHA:261552
Holt-Oram Syndrome
Cleft soft palate, Long philtrum OMIM:142900

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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