Phenotypes associated with this allele

• Allele Symbol: Setdb1^tm1.1Yshk
• Allele Name: targeted mutation 1.1, Yoichi Shinkai
• Allele ID: MGI:5440719
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Setdb1^tm1.1Yshk/Setdb1^tm1.1Yshk H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:7338918
cn2	Setdb1^tm1.1Yshk/Setdb1^tm1.1Yshk Emx2^tm2(cre)Sia/Emx2^+	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:5440721
cn3	Setdb1^tm1.1Yshk/Setdb1^tm1.1Yshk Tg(Nes-cre)1Kag/0	Not Specified	MGI:5440723

Genotype
MGI:7338918

cn1

• Allelic Composition: Setdb1^tm1.1Yshk/Setdb1^tm1.1Yshk; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

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

mortality/aging

neonatal lethality, complete penetrance ( J:321816 )

• mice die shortly after birth due to cleft palate defect

craniofacial

abnormal tooth development ( J:321816 )

• hypoplasia of the teeth at E14.5 and E15.5

abnormal palatal mesenchymal cell proliferation ( J:321816 )

• reduced proliferation of palatal mesenchymal cells at E14.5 as determined by BrdU staining, with no significant change in palatal mesenchymal cell apoptosis

abnormal secondary palate development ( J:321816 )

• decreased mRNA expression of Bmp4, Fgf10 and Pax9 in both the anterior and posterior parts of the palatal shelf at E13.5, with reduction of Wnt5a mRNA expression in the anterior part and of Bmpr1a expression in the posterior part of the palatal shelf

• loss of phospho-SMAD1/5/9 expression in the palatal mesenchyme at E13.5

cleft secondary palate ( J:321816 )

• cleft palate with full penetrance

delayed palatal shelf elevation ( J:321816 )

• delayed palatal shelf elevation at E14.5 and E15.5

tongue hypoplasia ( J:321816 )

• at E14.5 and E15.5

growth/size/body

abnormal tooth development ( J:321816 )

• hypoplasia of the teeth at E14.5 and E15.5

abnormal palatal mesenchymal cell proliferation ( J:321816 )

• reduced proliferation of palatal mesenchymal cells at E14.5 as determined by BrdU staining, with no significant change in palatal mesenchymal cell apoptosis

abnormal secondary palate development ( J:321816 )

• decreased mRNA expression of Bmp4, Fgf10 and Pax9 in both the anterior and posterior parts of the palatal shelf at E13.5, with reduction of Wnt5a mRNA expression in the anterior part and of Bmpr1a expression in the posterior part of the palatal shelf

• loss of phospho-SMAD1/5/9 expression in the palatal mesenchyme at E13.5

cleft secondary palate ( J:321816 )

• cleft palate with full penetrance

delayed palatal shelf elevation ( J:321816 )

• delayed palatal shelf elevation at E14.5 and E15.5

tongue hypoplasia ( J:321816 )

• at E14.5 and E15.5

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:321816 )

• reduced proliferation of palatal mesenchymal cells at E14.5 as determined by BrdU staining, with no significant change in palatal mesenchymal cell apoptosis

abnormal secondary palate development ( J:321816 )

• decreased mRNA expression of Bmp4, Fgf10 and Pax9 in both the anterior and posterior parts of the palatal shelf at E13.5, with reduction of Wnt5a mRNA expression in the anterior part and of Bmpr1a expression in the posterior part of the palatal shelf

• loss of phospho-SMAD1/5/9 expression in the palatal mesenchyme at E13.5

cleft secondary palate ( J:321816 )

• cleft palate with full penetrance

delayed palatal shelf elevation ( J:321816 )

• delayed palatal shelf elevation at E14.5 and E15.5

tongue hypoplasia ( J:321816 )

• at E14.5 and E15.5

skeleton

abnormal tooth development ( J:321816 )

• hypoplasia of the teeth at E14.5 and E15.5

Genotype
MGI:5440721

cn2

• Allelic Composition: Setdb1^tm1.1Yshk/Setdb1^tm1.1Yshk; Emx2^tm2(cre)Sia/Emx2⁺
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

mortality/aging

postnatal lethality, complete penetrance ( J:188109 )

• born alive but do not survive beyond P10

nervous system

increased neuron apoptosis ( J:188109 )

• increase in apoptosis at E13.5, primarily located in layers V-VI of the cortex

abnormal neuronal precursor proliferation ( J:188109 )

• in culture ventricular zone cells are less likely to develop into neurospheres of greater than 50 um in diameter indicating impaired proliferation

abnormal cerebral cortex morphology ( J:188109 )

• decrease in the number of early born layer V and VI neurons at E12.5

• decrease in the number of Ctip2+ layer V and VI neurons, Tbr1+ layer VI neurons and Tbr2+ basal progenitors in the cortex at E14.5 and E16.5

• increase in the number of Cux1+ and Satb2+ upper layer neurons at E18.5

• smaller cortex at E18.5 and P7

• severe reduction in the number of Ctip2+ layer V and VI neurons at P7

loss of cortex neurons ( J:188109 )

• increase in apoptosis at E13.5, primarily located in layers V-VI

abnormal astrocyte morphology ( J:188109 )

• increase in the number of astrocytes in the cortex at E18.5 and P7

abnormal nervous system development ( J:188109 )

• in culture neural progenitor cells from E14.5 embryos more readily differentiate into astrocytes

abnormal neuron differentiation ( J:188109 )

• premature acceleration of the production of late born upper layer neurons and deceleration of the production of early born deep layer neurons in the cerebral cortex

abnormal telencephalon development ( J:188109 )

• impairment of early neurogenesis indicated by decrease in the populations of deep layer neurons at E18.5

• premature acceleration of the production of late born upper layer neurons and deceleration of the production of early born deep layer neurons in the cerebral cortex

• partial reduction in the migration of GABAergic neurons into the dorsal telencephalon at E18.5

abnormal cortical plate morphology ( J:188109 )

• increase in the number of Brn2+ layer II-III neurons in the cortical plate at E14.5 and E16.5

decreased neuronal precursor cell number ( J:188109 )

• decrease in the number of basal progenitors (Tbr2+) at E11.5 and E12.5

decreased neuron number ( J:188109 )

• decrease in the number of early born layer V and VI neurons at E12.5

• decrease in the number of Ctip2+ layer V and VI neurons, Tbr1+ layer VI neurons and Tbr2+ basal progenitors in the cortex at E14.5 and E16.5

increased neuron number ( J:188109 )

• increase in the number of Cux1+ and Satb2+ upper layer neurons at E18.5

• increase in the number of Brn2+ layer II-III neurons in the cortical plate at E14.5 and E16.5

cellular

increased neuron apoptosis ( J:188109 )

• increase in apoptosis at E13.5, primarily located in layers V-VI of the cortex

abnormal neuron differentiation ( J:188109 )

• premature acceleration of the production of late born upper layer neurons and deceleration of the production of early born deep layer neurons in the cerebral cortex

abnormal neuronal precursor proliferation ( J:188109 )

• in culture ventricular zone cells are less likely to develop into neurospheres of greater than 50 um in diameter indicating impaired proliferation

Genotype
MGI:5440723

cn3

• Allelic Composition: Setdb1^tm1.1Yshk/Setdb1^tm1.1Yshk; Tg(Nes-cre)1Kag/0
• Genetic Background: Not Specified

mortality/aging

postnatal lethality, complete penetrance ( J:188109 )

• born alive but do not survive beyond P10

nervous system

abnormal astrocyte morphology ( J:188109 )

• increase in the number of astrocytes in the cortex at E18.5