Phenotypes associated with this allele

• Allele Symbol: Sox4^tm1.1Vlf
• Allele Name: targeted mutation 1.1, Veronique Lefebvre
• Allele ID: MGI:3773013
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox4^tm1.1Vlf/Sox4^tm1.1Vlf	involves: 129 * C57BL/6 * SJL	MGI:3773015
ht2	Sox4^tm1.1Vlf/Sox4^+	involves: 129 * C57BL/6 * FVB/N	MGI:5285370
cx3	Sox11^tm1.2Vlf/Sox11^+ Sox4^tm1.1Vlf/Sox4^+ Tead2^tm1Hssk/Tead2^tm1Hssk	involves: 129 * C57BL/6 * CBA * FVB/N	MGI:5285372
cx4	Sox11^tm1.2Vlf/Sox11^+ Sox4^tm1.1Vlf/Sox4^tm1.1Vlf	involves: 129 * C57BL/6 * FVB/N	MGI:5285371
cx5	Sox11^tm1.2Vlf/Sox11^+ Sox4^tm1.1Vlf/Sox4^+	involves: 129 * C57BL/6 * FVB/N	MGI:5285373
cx6	Sox11^tm1.2Vlf/Sox11^tm1.2Vlf Sox4^tm1.1Vlf/Sox4^+	involves: 129 * C57BL/6 * FVB/N	MGI:5285378
cx7	Sox11^tm1.2Vlf/Sox11^tm1.2Vlf Sox4^tm1.1Vlf/Sox4^tm1.1Vlf	involves: 129 * C57BL/6 * FVB/N	MGI:5285379
cx8	Sox11^tm1.2Vlf/Sox11^+ Sox12^tm1.1Vlf/Sox12^tm1.1Vlf Sox4^tm1.1Vlf/Sox4^+	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5285380
cx9	Sox11^tm1.2Vlf/Sox11^tm1.2Vlf Sox12^tm1.1Vlf/Sox12^tm1.1Vlf Sox4^tm1.1Vlf/Sox4^tm1.1Vlf	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5285381

Genotype
MGI:3773015

hm1

• Allelic Composition: Sox4^tm1.1Vlf/Sox4^tm1.1Vlf
• Genetic Background: involves: 129 * C57BL/6 * SJL

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

mortality/aging

prenatal lethality, complete penetrance ( J:130461 )

• mice die between E13.5 and E14.5 likely due to regurgitation of blood into the heart

cardiovascular system

persistent truncus arteriosus ( J:130461 )

abnormal semilunar valve development ( J:130461 )

• endocardial cushions form at the level of the semilunar valve but functional flaps do not form

abnormal interventricular septum morphology ( J:130461 )

• at E13.5, mice exhibit incomplete septation of the ventricles

homeostasis/metabolism

edema ( J:130461 )

• at E13.5

Genotype
MGI:5285370

ht2

• Allelic Composition: Sox4^tm1.1Vlf/Sox4⁺
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

cardiovascular system

thick interventricular septum ( J:175338 )

Genotype
MGI:5285372

cx3

• Allelic Composition: Sox11^tm1.2Vlf/Sox11⁺; Sox4^tm1.1Vlf/Sox4⁺; Tead2^tm1Hssk/Tead2^tm1Hssk
• Genetic Background: involves: 129 * C57BL/6 * CBA * FVB/N

cardiovascular system

double outlet right ventricle ( J:175338 )

• higher incident than in Tead2^tm1Hssk homozygotes and Sox4^tm1.1Vlf Sox11^tm2.2Weg heterozygotes

ventricular septal defect ( J:175338 )

• higher incident than in Tead2^tm1Hssk homozygotes and Sox4^tm1.1Vlf Sox11^tm2.2Weg heterozygotes

embryo

abnormal notochord morphology ( J:175338 )

• at E11.5, mice exhibit cell death around the notochord in the lumbar, but not thoracic, region compared with wild-type mice

skeleton

abnormal vertebrae morphology ( J:175338 )

• more severe and more frequent than in Tead2^tm1Hssk homozygotes and Sox4^tm1.1Vlf Sox11^tm2.2Weg heterozygotes

Genotype
MGI:5285371

cx4

• Allelic Composition: Sox11^tm1.2Vlf/Sox11⁺; Sox4^tm1.1Vlf/Sox4^tm1.1Vlf
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:175338 )

• mice die around E10.5

nervous system

open neural tube ( J:175338 )

cardiovascular system

failure of heart looping ( J:175338 )

• at E9.5, mice lack heart coiling unlike wild-type mice

craniofacial

abnormal pharyngeal arch mesenchyme morphology ( J:175338 )

• branchial arch mesenchyme is loose and small compared to in wild-type mice

embryo

abnormal pharyngeal arch mesenchyme morphology ( J:175338 )

• branchial arch mesenchyme is loose and small compared to in wild-type mice

incomplete embryo turning ( J:175338 )

• at E9.5

decreased embryo size ( J:175338 )

• at E9.5

open neural tube ( J:175338 )

growth/size/body

abnormal pharyngeal arch mesenchyme morphology ( J:175338 )

• branchial arch mesenchyme is loose and small compared to in wild-type mice

decreased embryo size ( J:175338 )

• at E9.5

Genotype
MGI:5285373

cx5

• Allelic Composition: Sox11^tm1.2Vlf/Sox11⁺; Sox4^tm1.1Vlf/Sox4⁺
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

mortality/aging

perinatal lethality, complete penetrance ( J:175338 )

• mice die on birth

skeleton

abnormal cranium morphology ( J:175338 )

• hypomineralized skull with wide sutures

wide cranial sutures ( J:175338 )

abnormal sternebra morphology ( J:175338 )

• hypoplastic

• the last two or three sternebrae are misshapen and irregularly mineralized

sternebra fusion ( J:175338 )

abnormal xiphoid process morphology ( J:175338 )

• the xiphoid process is misshapen and irregularly mineralized

abnormal lumbar vertebrae morphology ( J:175338 )

• unfused lumbar vertebral bodies

• L4 and L5 are duplicated

abnormal bone mineralization ( J:175338 )

• hypomineralized skull

• the last two or three sternebrae and the xiphoid process are irregularly mineralized

cardiovascular system

double outlet right ventricle ( J:175338 )

ventricular septal defect ( J:175338 )

• incomplete ventricular septation

vision/eye

vision/eye phenotype ( J:175338 )

N • mice exhibit normal eyes

craniofacial

craniofacial phenotype ( J:175338 )

N • mice exhibit normal palate and lip formation

abnormal cranium morphology ( J:175338 )

• hypomineralized skull with wide sutures

wide cranial sutures ( J:175338 )

hematopoietic system

small spleen ( J:175338 )

• in 60% of mice

immune system

small spleen ( J:175338 )

• in 60% of mice

growth/size/body

omphalocele ( J:175338 )

• in 50% of mice in one of 2 crosses

Genotype
MGI:5285378

cx6

• Allelic Composition: Sox11^tm1.2Vlf/Sox11^tm1.2Vlf; Sox4^tm1.1Vlf/Sox4⁺
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:175338 )

• mice die between E14.5 and E16.5

cardiovascular system

myocardium hypoplasia ( J:175338 )

• hypoplastic myocardium

persistent truncus arteriosus ( J:175338 )

semilunar valve hypoplasia ( J:175338 )

• hypoplastic semilunar valves

skeleton

micrognathia ( J:175338 )

• at E17.5

sternum hypoplasia ( J:175338 )

• at E17.5

abnormal skeleton development ( J:175338 )

• underdeveloped

vision/eye

aphakia ( J:175338 )

• at E17.5

abnormal eye development ( J:175338 )

• underdeveloped

microphthalmia ( J:175338 )

• at E17.5

eyelids open at birth ( J:175338 )

respiratory system

abnormal lung development ( J:175338 )

• underdeveloped

small lung ( J:175338 )

• at E17.5

craniofacial

micrognathia ( J:175338 )

• at E17.5

homeostasis/metabolism

edema ( J:175338 )

• generalized at E17.5

muscle

myocardium hypoplasia ( J:175338 )

• hypoplastic myocardium

Genotype
MGI:5285379

cx7

• Allelic Composition: Sox11^tm1.2Vlf/Sox11^tm1.2Vlf; Sox4^tm1.1Vlf/Sox4^tm1.1Vlf
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:175338 )

• mice die around E10.5

nervous system

abnormal neural tube morphology ( J:175338 )

• thin at E9.5

• increased cell death and decreased cell proliferation

incomplete rostral neuropore closure ( J:175338 )

• rostrally open neural tube at E9.5

wavy neural tube ( J:175338 )

• undulated neural tube at E9.5

cardiovascular system

abnormal heart development ( J:175338 )

• unfused heart primordia at E9.5

cardia bifida ( J:175338 )

• at E9.5

cellular

abnormal cell death ( J:175338 )

• at E9.5, mice exhibit increased cell death in the neural tube, branchial arches, and somites unlike in wild-type mice

decreased cell proliferation ( J:175338 )

• cell proliferation in the neural tube, branchial arches, and somites is reduced compared to in wild-type mice

craniofacial

abnormal pharyngeal arch mesenchyme morphology ( J:175338 )

• branchial arch mesenchyme is loose and small compared to in wild-type mice

embryo

abnormal pharyngeal arch mesenchyme morphology ( J:175338 )

• branchial arch mesenchyme is loose and small compared to in wild-type mice

incomplete embryo turning ( J:175338 )

• at E9.5

abnormal pharyngeal arch development ( J:175338 )

• increased cell death and decreased cell proliferation

embryonic growth arrest ( J:175338 )

• at E8.5

decreased embryo size ( J:175338 )

• at E9.5

absent limb buds ( J:175338 )

• limbs fail to bud

abnormal neural tube morphology ( J:175338 )

• thin at E9.5

• increased cell death and decreased cell proliferation

incomplete rostral neuropore closure ( J:175338 )

• rostrally open neural tube at E9.5

wavy neural tube ( J:175338 )

• undulated neural tube at E9.5

impaired somite development ( J:175338 )

• rudimentary with increased cell death and decreased cell proliferation

growth/size/body

abnormal pharyngeal arch mesenchyme morphology ( J:175338 )

• branchial arch mesenchyme is loose and small compared to in wild-type mice

decreased embryo size ( J:175338 )

• at E9.5

limbs/digits/tail

absent limb buds ( J:175338 )

• limbs fail to bud

Genotype
MGI:5285380

cx8

• Allelic Composition: Sox11^tm1.2Vlf/Sox11⁺; Sox12^tm1.1Vlf/Sox12^tm1.1Vlf; Sox4^tm1.1Vlf/Sox4⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

cardiovascular system

persistent truncus arteriosus ( J:175338 )

double outlet right ventricle ( J:175338 )

ventricular septal defect ( J:175338 )

• incomplete ventricular septation

skeleton

abnormal cranium morphology ( J:175338 )

• hypomineralized skull

abnormal sternebra morphology ( J:175338 )

• fusion and /or deletion

• split sternal bars in all mice

sternebra fusion ( J:175338 )

abnormal vertebrae morphology ( J:175338 )

• vertebral body duplication in all mice

abnormal bone mineralization ( J:175338 )

• hypomineralized skull

craniofacial

abnormal cranium morphology ( J:175338 )

• hypomineralized skull

immune system

small spleen ( J:175338 )

• in all mice

hematopoietic system

small spleen ( J:175338 )

• in all mice

Genotype
MGI:5285381

cx9

• Allelic Composition: Sox11^tm1.2Vlf/Sox11^tm1.2Vlf; Sox12^tm1.1Vlf/Sox12^tm1.1Vlf; Sox4^tm1.1Vlf/Sox4^tm1.1Vlf
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

embryo

abnormal neural tube morphology ( J:175338 )

• thin

• more severe than in Sox4^tm1.1Vlf Sox11^tm2.2Weg double homozygotes

kinked neural tube ( J:175338 )

• more severe than in Sox4^tm1.1Vlf Sox11^tm2.2Weg double homozygotes

nervous system

abnormal neural tube morphology ( J:175338 )

• thin

• more severe than in Sox4^tm1.1Vlf Sox11^tm2.2Weg double homozygotes

kinked neural tube ( J:175338 )

• more severe than in Sox4^tm1.1Vlf Sox11^tm2.2Weg double homozygotes