Phenotypes Associated with This Genotype

Genotype
MGI:5784730

• Allelic Composition: Arid1a^tm1.1Mag/Arid1a^tm1.1Mag; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

abnormal blood vessel morphology ( J:231470 )

• patterning defects in the great vessels at E12.5

abnormal fourth pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have thin- or, to a lesser extent, non-patent PAA4 defects

abnormal sixth pharyngeal arch artery morphology ( J:231470 )

• E10.5 embryos show thin- or non-patent left and right pharyngeal arch artery (PAA6) defects

abnormal third pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have larger diameter PAA3 vessels

absent fetal ductus arteriosus ( J:231470 )

• E12.5 embryos fail to form a PAA6-derived ductus arteriosus

abnormal cardiac neural crest cell morphology ( J:231470 )

• neural crest cell cardiac lineage alterations are seen in E9.5 embryos

• migrating cardiac neural crest cells undergo apoptosis within the circumpharyngeal ridge

• E10.5 embryos show improper colonization of posterior cardiac neural crest cells

abnormal cardiac outflow tract development ( J:231470 )

• marker analysis show that neural crest cell colonization and patterning of the cardiac outflow tract are abnormal

persistent truncus arteriosus ( J:231470 )

abnormal aortic valve development ( J:231470 )

• misaligned or abnormally patterned aortic valves

abnormal pulmonary valve development ( J:231470 )

• misaligned or abnormally patterned pulmonary valves

abnormal interventricular septum morphology ( J:231470 )

• incomplete formation of ventricular septum

cellular

abnormal cardiac neural crest cell migration ( J:231470 )

• marker analysis indicates defects in early migrating cardiac neural crest cells

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have thin- or, to a lesser extent, non-patent PAA4 defects

abnormal sixth pharyngeal arch artery morphology ( J:231470 )

• E10.5 embryos show thin- or non-patent left and right pharyngeal arch artery (PAA6) defects

abnormal third pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have larger diameter PAA3 vessels

abnormal cranium morphology ( J:231470 )

• most of the bones that form the ventral cranial skeleton are greatly reduced in size

• head skeleton shows ventrolaterally positioned, dorsal cranial bones, including the frontal and parietal bones

abnormal neurocranium morphology ( J:231470 )

• embryos exhibit depressed cranial vaults

abnormal first pharyngeal arch morphology ( J:231470 )

• increase in apoptosis in the ventral half of mandibular region of pharyngeal arch 1

short snout ( J:231470 )

• in embryos

lowered ear position ( J:231470 )

• embryos exhibit low set ears

embryo

abnormal fourth pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have thin- or, to a lesser extent, non-patent PAA4 defects

abnormal sixth pharyngeal arch artery morphology ( J:231470 )

• E10.5 embryos show thin- or non-patent left and right pharyngeal arch artery (PAA6) defects

abnormal third pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have larger diameter PAA3 vessels

abnormal cardiac neural crest cell morphology ( J:231470 )

• neural crest cell cardiac lineage alterations are seen in E9.5 embryos

• migrating cardiac neural crest cells undergo apoptosis within the circumpharyngeal ridge

• E10.5 embryos show improper colonization of posterior cardiac neural crest cells

abnormal cardiac neural crest cell migration ( J:231470 )

• marker analysis indicates defects in early migrating cardiac neural crest cells

abnormal first pharyngeal arch morphology ( J:231470 )

• increase in apoptosis in the ventral half of mandibular region of pharyngeal arch 1

growth/size/body

short snout ( J:231470 )

• in embryos

lowered ear position ( J:231470 )

• embryos exhibit low set ears

microcephaly ( J:231470 )

• small head size in embryos

hearing/vestibular/ear

lowered ear position ( J:231470 )

• embryos exhibit low set ears

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:231470 )

• fewer than the expected number of mutants are seen from E15 to P0

nervous system

abnormal cardiac neural crest cell morphology ( J:231470 )

• neural crest cell cardiac lineage alterations are seen in E9.5 embryos

• migrating cardiac neural crest cells undergo apoptosis within the circumpharyngeal ridge

• E10.5 embryos show improper colonization of posterior cardiac neural crest cells

skeleton

abnormal cranium morphology ( J:231470 )

• most of the bones that form the ventral cranial skeleton are greatly reduced in size

• head skeleton shows ventrolaterally positioned, dorsal cranial bones, including the frontal and parietal bones

abnormal neurocranium morphology ( J:231470 )

• embryos exhibit depressed cranial vaults

vision/eye

abnormal eye distance/ position ( J:231470 )

• embryos exhibit low set eyes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Coffin-Siris syndrome		DOID:1925	OMIM:PS135900	J:231470