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Phenotypes Associated with This Genotype
Genotype
MGI:8220137
Allelic
Composition
Arhgap29em1Cya/Arhgap29em1Cya
Genetic
Background
C57BL/6J-Arhgap29em1Cya/Cya
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arhgap29em1Cya mutation (1 available); any Arhgap29 mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice do not survive more than 7 days

craniofacial
• newborns have abnormal oral fissures
• P0 mice exhibit malformed molar germs and incisor germs
• P0 mice exhibit enamel dysplasia
• E14.5 embryos exhibit a delay in development of the palate such that palatal shelves do not reach the midline of the palate from the anterior palate, medial, to the posterior palate
• palatal shelves at E15.5 have elevated, however the anterior palate, medial, and posterior palate have a fusion failure of palatal shelves
• at E16.5, mice show a complete cleft palate from the anterior palate, medial, to the posterior palate
• palatal mesenchyme shows decreased apoptosis and increased proliferation at E14.5
• palatal mesenchyme shows increased proliferation at E14.5
• palatal shelves display developmental defects
• P0 mice exhibit a complete cleft palate with 28.57% penetrance

growth/size/body
• newborns have abnormal oral fissures
• P0 mice exhibit malformed molar germs and incisor germs
• P0 mice exhibit enamel dysplasia
• E14.5 embryos exhibit a delay in development of the palate such that palatal shelves do not reach the midline of the palate from the anterior palate, medial, to the posterior palate
• palatal shelves at E15.5 have elevated, however the anterior palate, medial, and posterior palate have a fusion failure of palatal shelves
• at E16.5, mice show a complete cleft palate from the anterior palate, medial, to the posterior palate
• palatal mesenchyme shows decreased apoptosis and increased proliferation at E14.5
• palatal mesenchyme shows increased proliferation at E14.5
• palatal shelves display developmental defects
• P0 mice exhibit a complete cleft palate with 28.57% penetrance

cardiovascular system
• body surface of hearts is pale suggesting insufficient blood supply
• E14.5 embryos exhibit cardiac defects such as rounded ventricular wall or ventricular septal defect and loosely arranged cardiomyocytes
• ventricular septal defect is seen at E14.5
• rounded ventricular wall at E14.5

limbs/digits/tail
• ectrodactyly in the forefoot at E14.5

digestive/alimentary system
• E14.5 embryos exhibit a delay in development of the palate such that palatal shelves do not reach the midline of the palate from the anterior palate, medial, to the posterior palate
• palatal shelves at E15.5 have elevated, however the anterior palate, medial, and posterior palate have a fusion failure of palatal shelves
• at E16.5, mice show a complete cleft palate from the anterior palate, medial, to the posterior palate
• palatal mesenchyme shows decreased apoptosis and increased proliferation at E14.5
• palatal mesenchyme shows increased proliferation at E14.5
• palatal shelves display developmental defects
• P0 mice exhibit a complete cleft palate with 28.57% penetrance

skeleton
• P0 mice exhibit malformed molar germs and incisor germs
• P0 mice exhibit enamel dysplasia

vision/eye
• ocular abnormalities are seen at E14.5, including slight microphthalmia with a slightly abnormal pupil shape, moderate microphthalmia, and severe microphthalmia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
EEC syndrome DOID:0060782 J:367731


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory