Phenotypes associated with this allele

• Allele Symbol: Sox11^tm1.1Gan
• Allele Name: targeted mutation 1.1, Lin Gan
• Allele ID: MGI:5518640
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Sox11^tm1.1Gan/Sox11^tm1.1Gan Sox4^tm1Vlf/Sox4^tm1Vlf Tg(Six3-cre)69Frty/0	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * DBA/2	MGI:5518648
cn2	Sox11^tm1.1Gan/Sox11^tm1.1Gan Tg(Six3-cre)69Frty/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA/2	MGI:5518647
cn3	Sox11^tm1.1Gan/Sox11^tm1.1Gan Tg(EIIa-cre)C5379Lmgd/0	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:5827939

Genotype
MGI:5518648

cn1

• Allelic Composition: Sox11^tm1.1Gan/Sox11^tm1.1Gan; Sox4^tm1Vlf/Sox4^tm1Vlf; Tg(Six3-cre)69Frty/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * DBA/2

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

Decrease in retinal ganglion cells in single Sox11^tm1.1Gan and Sox4^tm1Vlf homozygous conditional mutants and abolishment of retinal ganglion cells in Sox11^tm1.1Gan/Sox11^tm1.1Gan Sox4^tm1Vlf/Sox4^tm1Vlf Tg(Six3-cre)69Frty/0 retinas

mortality/aging

postnatal lethality, complete penetrance ( J:199663 )

• mice die before P14

vision/eye

increased retina apoptosis ( J:199663 )

• 6-fold increase starting at E14.5

• 10-fold increase starting at E16.5

decreased amacrine cell number ( J:199663 )

decreased retina ganglion cell number ( J:199663 )

• only a few cells present at E12.5

absent retina ganglion cell ( J:199663 )

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

absent optic nerve ( J:199663 )

abnormal eye development ( J:199663 )

• impaired retinal ganglion cell development

absent retina ganglion layer ( J:199663 )

• at E16.5

thin retina ganglion layer ( J:199663 )

• at E14.5

absent retina inner plexiform layer ( J:199663 )

abnormal retina outer plexiform layer morphology ( J:199663 )

• absent

growth/size/body

decreased birth body size ( J:199663 )

cellular

increased retina apoptosis ( J:199663 )

• 6-fold increase starting at E14.5

• 10-fold increase starting at E16.5

nervous system

decreased amacrine cell number ( J:199663 )

decreased retina ganglion cell number ( J:199663 )

• only a few cells present at E12.5

absent retina ganglion cell ( J:199663 )

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

absent optic nerve ( J:199663 )

Genotype
MGI:5518647

cn2

• Allelic Composition: Sox11^tm1.1Gan/Sox11^tm1.1Gan; Tg(Six3-cre)69Frty/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA/2

Decrease in retinal ganglion cells in single Sox11^tm1.1Gan and Sox4^tm1Vlf homozygous conditional mutants and abolishment of retinal ganglion cells in Sox11^tm1.1Gan/Sox11^tm1.1Gan Sox4^tm1Vlf/Sox4^tm1Vlf Tg(Six3-cre)69Frty/0 retinas

vision/eye

vision/eye phenotype ( J:199663 )

N • mice exhibit normal numbers of horizontal, Muller glial, cone and rod cells

increased retina apoptosis ( J:199663 )

• 2-fold increase starting at E14.5

optic nerve hypoplasia ( J:199663 )

• thin

abnormal eye development ( J:199663 )

• impaired retinal ganglion cell development

abnormal retina morphology ( J:199663 )

• reduced number of axon bundles in the retina

decreased amacrine cell number ( J:199663 )

• in the inner nuclear layer and ganglion cell layer

decreased retina ganglion cell number ( J:199663 )

• beginning from E12.5 to E16.5

• moderate at P0 and in adult mice

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

thin retina ganglion layer ( J:199663 )

thin retina inner nuclear layer ( J:199663 )

growth/size/body

decreased birth weight ( J:199663 )

• moderate

• however, mice exhibit normal body weight and size by P30

cellular

increased retina apoptosis ( J:199663 )

• 2-fold increase starting at E14.5

abnormal axon fasciculation ( J:199663 )

• reduced in retinal axon bundles

nervous system

abnormal axon fasciculation ( J:199663 )

• reduced in retinal axon bundles

decreased amacrine cell number ( J:199663 )

• in the inner nuclear layer and ganglion cell layer

decreased retina ganglion cell number ( J:199663 )

• beginning from E12.5 to E16.5

• moderate at P0 and in adult mice

abnormal retina bipolar cell morphology ( J:199663 )

• decreased number

optic nerve hypoplasia ( J:199663 )

• thin

Genotype
MGI:5827939

cn3

• Allelic Composition: Sox11^tm1.1Gan/Sox11^tm1.1Gan; Tg(EIIa-cre)C5379Lmgd/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

Sox11^tm1.1Gan/Sox11^tm1.1Gan Tg(EIIa-cre)C5379Lmgd/0 mutants display cleft palate with retardation to palatal shelf elevation

craniofacial

abnormal craniofacial morphology ( J:232434 )

• 100% penetrance of craniofacial malformations

small Meckel's cartilage ( J:232434 )

• reduction in Meckel cartilage size at E13.5

abnormal mandible morphology ( J:232434 )

• the mandible shows decreased proliferation in mesenchymal cells in and around the Meckel cartilage at E13.5

mandible hypoplasia ( J:232434 )

• mandible is narrow and small

short mandible ( J:232434 )

• reduction in mandibular length at E13.5

abnormal palatal mesenchymal cell proliferation ( J:232434 )

• a 25% reduction in palatal mesenchyme is seen at E13.5

• mesenchymal cell proliferation is reduced in the proximal bend region of the palatal shelf at E13.5

abnormal secondary palate development ( J:232434 )

• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation

• a 25% reduction in palatal mesenchyme is seen at E13.5

• a 19% reduction in palatal epithelial cells is seen at E13.5

• proliferation of both epithelial and mesenchymal cells in the proximal bend region of the palatal shelf is reduced at E13.5

• however, the fusion mechanism of palatal shelves is not disrupted; bilateral palatal shelves grown in culture on Nucleopore filters show complete fusion

decreased palatal shelf size ( J:232434 )

• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5

cleft upper lip ( J:232434 )

• cleft lip in 70% of mutants

cleft secondary palate ( J:232434 )

• complete clefting of the secondary palate

delayed palatal shelf elevation ( J:232434 )

• the bilateral palatal shelves of E14.5 embryos fail to elevate and remain at the vertical position at E14.5 and E15.5 although occasional elevation of one or both sides of the palatal shelves occurs in later stages

• however, initial downward growth of palatal shelves occurs normally at E11.5, E12.5, and E13.5

• in vitro organ culture of E13.5 head with mandible or tongue removed in roller bottles show that palatal shelves are able to elevate after 24 hours in rolling culture

abnormal tongue position ( J:232434 )

• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:232434 )

• a 25% reduction in palatal mesenchyme is seen at E13.5

• mesenchymal cell proliferation is reduced in the proximal bend region of the palatal shelf at E13.5

abnormal secondary palate development ( J:232434 )

• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation

• a 25% reduction in palatal mesenchyme is seen at E13.5

• a 19% reduction in palatal epithelial cells is seen at E13.5

• proliferation of both epithelial and mesenchymal cells in the proximal bend region of the palatal shelf is reduced at E13.5

• however, the fusion mechanism of palatal shelves is not disrupted; bilateral palatal shelves grown in culture on Nucleopore filters show complete fusion

decreased palatal shelf size ( J:232434 )

• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5

cleft secondary palate ( J:232434 )

• complete clefting of the secondary palate

delayed palatal shelf elevation ( J:232434 )

• the bilateral palatal shelves of E14.5 embryos fail to elevate and remain at the vertical position at E14.5 and E15.5 although occasional elevation of one or both sides of the palatal shelves occurs in later stages

• however, initial downward growth of palatal shelves occurs normally at E11.5, E12.5, and E13.5

• in vitro organ culture of E13.5 head with mandible or tongue removed in roller bottles show that palatal shelves are able to elevate after 24 hours in rolling culture

abnormal tongue position ( J:232434 )

• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation

growth/size/body

abnormal palatal mesenchymal cell proliferation ( J:232434 )

• a 25% reduction in palatal mesenchyme is seen at E13.5

• mesenchymal cell proliferation is reduced in the proximal bend region of the palatal shelf at E13.5

abnormal secondary palate development ( J:232434 )

• delay in elevation of palatal shelves resulting in retardation of palatal shelf formation

• a 25% reduction in palatal mesenchyme is seen at E13.5

• a 19% reduction in palatal epithelial cells is seen at E13.5

• proliferation of both epithelial and mesenchymal cells in the proximal bend region of the palatal shelf is reduced at E13.5

• however, the fusion mechanism of palatal shelves is not disrupted; bilateral palatal shelves grown in culture on Nucleopore filters show complete fusion

decreased palatal shelf size ( J:232434 )

• the palatal shelves become regressed at the proximal portion, resulting in reduction in the size of the palatal shelves at E15.5

cleft upper lip ( J:232434 )

• cleft lip in 70% of mutants

cleft secondary palate ( J:232434 )

• complete clefting of the secondary palate

delayed palatal shelf elevation ( J:232434 )

• the bilateral palatal shelves of E14.5 embryos fail to elevate and remain at the vertical position at E14.5 and E15.5 although occasional elevation of one or both sides of the palatal shelves occurs in later stages

• however, initial downward growth of palatal shelves occurs normally at E11.5, E12.5, and E13.5

• in vitro organ culture of E13.5 head with mandible or tongue removed in roller bottles show that palatal shelves are able to elevate after 24 hours in rolling culture

abnormal tongue position ( J:232434 )

• tongue position remains heightened during palatal elevation by E14.5 along the anterior-posterior axis causing physical retardation of palatal elevation

skeleton

small Meckel's cartilage ( J:232434 )

• reduction in Meckel cartilage size at E13.5

abnormal mandible morphology ( J:232434 )

• the mandible shows decreased proliferation in mesenchymal cells in and around the Meckel cartilage at E13.5

mandible hypoplasia ( J:232434 )

• mandible is narrow and small

short mandible ( J:232434 )

• reduction in mandibular length at E13.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Weissenbacher-Zweymuller syndrome		DOID:4258	OMIM:261800	J:232434