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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Sox4
SRY (sex determining region Y)-box 4
MGI:98366
57 phenotypes from 7 alleles in 10 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Sox4em1(IMPC)Mbp/Sox4+
C57BL/6NCrl-Sox4em1(IMPC)Mbp/MbpMmucd 		abnormal bone structure J:211773
abnormal brain morphology J:211773
abnormal gallbladder morphology J:211773
abnormal retina blood vessel morphology J:211773
abnormal retina morphology J:211773
abnormal retina vasculature morphology J:211773
abnormal uterus morphology J:211773
decreased body length J:211773
decreased brain size J:211773
enlarged gallbladder J:211773
enlarged uterus J:211773
increased circulating alkaline phosphatase level J:211773
increased freezing behavior J:211773
persistence of hyaloid vascular system J:211773
Sox4em1(IMPC)Mbp/Sox4em1(IMPC)Mbp
C57BL/6NCrl-Sox4em1(IMPC)Mbp/MbpMmucd 		abnormal heart morphology J:211773
abnormal hindbrain development J:211773
abnormal neural tube closure J:211773
abnormal neural tube morphology J:211773
preweaning lethality, complete penetrance J:211773
Sox4Igt4/Sox4+
involves: C3H/HeH * C57BL/6 		decreased circulating insulin level J:141688
decreased insulin secretion J:141688
impaired glucose tolerance J:141688
Sox4Igt4/Sox4Igt4
involves: C3H/HeH * C57BL/6 		lethality throughout fetal growth and development, complete penetrance J:141688
Sox4Igt4/Sox4M91Ark
involves: C3H/HeH * C57BL/6 		lethality throughout fetal growth and development, complete penetrance J:141688
Sox4M91Ark/Sox4+
involves: C3H/HeH 		decreased circulating insulin level J:141688
decreased insulin secretion J:141688
impaired glucose tolerance J:141688
Sox4tm1.1Vlf/Sox4+
involves: 129 * C57BL/6 * FVB/N 		thick interventricular septum J:175338
Sox4tm1.1Vlf/Sox4tm1.1Vlf
involves: 129 * C57BL/6 * SJL 		abnormal interventricular septum morphology J:130461
abnormal semilunar valve development J:130461
edema J:130461
persistent truncus arteriosus J:130461
prenatal lethality, complete penetrance J:130461
Sox4tm1Cle/Sox4tm1Cle
involves: 129P2/OlaHsd * C57BL/6 		abnormal aorticopulmonary septum morphology J:32741
abnormal B cell differentiation J:32741
abnormal blood circulation J:32741
abnormal conotruncal ridge morphology J:51464
abnormal coronary artery morphology J:51464
abnormal semilunar valve morphology J:32741
absent pre-B cells J:32741
decreased pro-B cell number J:32741
failure of conotruncal ridge closure J:32741
hydrops fetalis J:32741
increased heart rate J:32741
lethality throughout fetal growth and development, complete penetrance J:32741
perimembraneous ventricular septal defect J:32741
persistent right dorsal aorta J:51464
tracheoesophageal fistula J:51464
Sox4tm1Vlf/Sox4tm1Vlf
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		no abnormal phenotype detected J:130461
Sox4tm1Vlf/Sox4tm1Vlf
Tg(CAG-cre/Esr1*)5Amc/0
involves: 129 * C57BL/6 * CBA * SJL 		abnormal interventricular septum morphology J:130461
abnormal semilunar valve development J:130461
edema J:130461
persistent truncus arteriosus J:130461
prenatal lethality, complete penetrance J:130461
Sox4tm1Vlf/Sox4tm1Vlf
Tg(Dbh-icre)1Gsc/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal nervous system development J:157923
abnormal sympathetic ganglion morphology J:157923
Sox4tm1Vlf/Sox4tm1Vlf
Tg(Six3-cre)69Frty/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * DBA/2 		abnormal axon fasciculation J:199663
abnormal eye development J:199663
abnormal retina bipolar cell morphology J:199663
abnormal retina morphology J:199663
decreased amacrine cell number J:199663
decreased retina ganglion cell number J:199663
increased retina apoptosis J:199663
optic nerve hypoplasia J:199663
thin retina ganglion layer J:199663
thin retina inner nuclear layer J:199663
normal vision/eye phenotype J:199663
Sox4tm2Cle/Sox4tm2Cle
involves: 129P2/OlaHsd * C57BL/6 		abnormal B cell differentiation J:32741
abnormal blood circulation J:32741
abnormal semilunar valve morphology J:32741
absent pre-B cells J:32741
decreased pro-B cell number J:32741
failure of conotruncal ridge closure J:32741
hydrops fetalis J:32741
increased heart rate J:32741
lethality throughout fetal growth and development, complete penetrance J:32741
ventricular septal defect J:32741
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11/12/2024
MGI 6.24 		The Jackson Laboratory