Phenotypes associated with this allele

• Allele Symbol: Arid1a^tm1.1Mag
• Allele Name: targeted mutation 1.1, Terry Magnuson
• Allele ID: MGI:5708705
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Arid1a^tm1.1Mag/Arid1a^tm1.1Mag Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5784731
cn2	Arid1a^tm1.1Mag/Arid1a^tm1.1Mag Gt(ROSA)26Sor^tm1(Pik3ca*H1047R)Egan/Gt(ROSA)26Sor^+	involves: 129S6/SvEvTac * CD-1	MGI:5784677
cn3	Arid1a^tm1.1Mag/Arid1a^+ Gt(ROSA)26Sor^tm1(Pik3ca*H1047R)Egan/Gt(ROSA)26Sor^+	involves: 129S6/SvEvTac * CD-1	MGI:5784679
cn4	Arid1a^tm1.1Mag/Arid1a^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5784729
cn5	Arid1a^tm1.1Mag/Arid1a^tm1.1Mag H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5784730

Genotype
MGI:5784731

cn1

• Allelic Composition: Arid1a^tm1.1Mag/Arid1a^tm1.1Mag; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

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

cardiovascular system

abnormal cardiac outflow tract development ( J:231470 )

• shortened outflow tracts

abnormal conotruncus septation ( J:231470 )

• cardiac outflow tracts of E11.5 embryos show no evidence of conotruncal septation

cellular

abnormal neural crest cell migration ( J:231470 )

• fewer neural crest cells are seen in post-otic and circumpharyngeal streams of E10.5 embryos

abnormal cardiac neural crest cell migration ( J:231470 )

• the depth of cardiac outflow tract penetration by neural crest cells is reduced and elongation of the outflow tract apparatus is truncated in E10.5 embryos, resulting in shortened outflow tracts

embryo

abnormal neural crest cell migration ( J:231470 )

• fewer neural crest cells are seen in post-otic and circumpharyngeal streams of E10.5 embryos

abnormal cardiac neural crest cell migration ( J:231470 )

• the depth of cardiac outflow tract penetration by neural crest cells is reduced and elongation of the outflow tract apparatus is truncated in E10.5 embryos, resulting in shortened outflow tracts

Genotype
MGI:5784677

cn2

• Allelic Composition: Arid1a^tm1.1Mag/Arid1a^tm1.1Mag; Gt(ROSA)26Sor^{tm1(Pik3ca*H1047R)Egan}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S6/SvEvTac * CD-1

endocrine/exocrine glands

increased ovary tumor incidence ( J:219794 )

♀ • mice injected with an adenovirus expressing cre recombinase (AdCre) in the ovarian bursa rapidly develop primary ovarian tumors

♀ • treatment of isolated tumor cells with the pan-class I PI3K inhibitor, Buparlisib, results in reduced tumor cell viability

♀ • treatment of mice with Buparlisib for 3 weeks starting at week 4 post AdCre injection extends the median latency period of ovarian tumors by 3.5 weeks

increased ovarian carcinoma incidence ( J:219794 )

♀ • ovarian tumors of intrabursally AdCre injected mice are predominately solid with some papillary areas, exhibit elongated spindle-shaped cells with vacuolated cytoplasm embedded in hyalinized matrix, appear poorly differentiated and highly disorganized, and have a hobnail appearance, indicating they resemble human ovarian clear-cell carcinoma

homeostasis/metabolism

hemorrhagic ascites ( J:219794 )

♀ • intrabursally AdCre injected mice exhibit hemorrhagic ascites

immune system

increased interleukin-6 secretion ( J:219794 )

♀ • AdCre treated mice that have tumors exhibit high levels of secreted IL-6 in body fluids and ascitic fluid aspirates

neoplasm

increased ovary tumor incidence ( J:219794 )

♀ • mice injected with an adenovirus expressing cre recombinase (AdCre) in the ovarian bursa rapidly develop primary ovarian tumors

♀ • treatment of isolated tumor cells with the pan-class I PI3K inhibitor, Buparlisib, results in reduced tumor cell viability

♀ • treatment of mice with Buparlisib for 3 weeks starting at week 4 post AdCre injection extends the median latency period of ovarian tumors by 3.5 weeks

increased ovarian carcinoma incidence ( J:219794 )

♀ • ovarian tumors of intrabursally AdCre injected mice are predominately solid with some papillary areas, exhibit elongated spindle-shaped cells with vacuolated cytoplasm embedded in hyalinized matrix, appear poorly differentiated and highly disorganized, and have a hobnail appearance, indicating they resemble human ovarian clear-cell carcinoma

increased metastatic potential ( J:219794 )

♀ • peritoneal metastases are seen in about 50% of mice injected with AdCre in the ovarian bursa

reproductive system

increased ovary tumor incidence ( J:219794 )

♀ • mice injected with an adenovirus expressing cre recombinase (AdCre) in the ovarian bursa rapidly develop primary ovarian tumors

♀ • treatment of isolated tumor cells with the pan-class I PI3K inhibitor, Buparlisib, results in reduced tumor cell viability

♀ • treatment of mice with Buparlisib for 3 weeks starting at week 4 post AdCre injection extends the median latency period of ovarian tumors by 3.5 weeks

increased ovarian carcinoma incidence ( J:219794 )

♀ • ovarian tumors of intrabursally AdCre injected mice are predominately solid with some papillary areas, exhibit elongated spindle-shaped cells with vacuolated cytoplasm embedded in hyalinized matrix, appear poorly differentiated and highly disorganized, and have a hobnail appearance, indicating they resemble human ovarian clear-cell carcinoma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ovarian cancer		DOID:2394	OMIM:167000 OMIM:607893	J:219794

Genotype
MGI:5784679

cn3

• Allelic Composition: Arid1a^tm1.1Mag/Arid1a⁺; Gt(ROSA)26Sor^{tm1(Pik3ca*H1047R)Egan}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S6/SvEvTac * CD-1

endocrine/exocrine glands

abnormal ovary morphology ( J:219794 )

♀ • 5 of 7 mice injected with an adenovirus expressing cre recombinase (AdCre) in the ovarian bursa exhibit ovarian surface epithelium hyperplasia

neoplasm

neoplasm ( J:219794 )

♀N • however, intrabursally AdCre injected mice do not form ovarian tumors

reproductive system

abnormal ovary morphology ( J:219794 )

♀ • 5 of 7 mice injected with an adenovirus expressing cre recombinase (AdCre) in the ovarian bursa exhibit ovarian surface epithelium hyperplasia

Genotype
MGI:5784729

cn4

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

craniofacial

small temporal bone squamous part ( J:231470 )

• smaller squamosal bones

short premaxilla ( J:231470 )

abnormal palatine bone morphology ( J:231470 )

• the anterior palatine length is reduced

short snout ( J:231470 )

lowered ear position ( J:231470 )

growth/size/body

short snout ( J:231470 )

lowered ear position ( J:231470 )

abnormal body composition ( J:231470 )

• body mass is lower

• however, mice show similar intercanthal distance and molar width as wild-type mice, suggesting that craniofacial defects are not due to proportional body size differences

hearing/vestibular/ear

lowered ear position ( J:231470 )

skeleton

small temporal bone squamous part ( J:231470 )

• smaller squamosal bones

short premaxilla ( J:231470 )

abnormal palatine bone morphology ( J:231470 )

• the anterior palatine length is reduced

vision/eye

enophthalmos ( J:231470 )

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

Genotype
MGI:5784730

cn5

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

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