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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sox9tm1Gsr
targeted mutation 1, Gerd Scherer
MGI:2385468
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Sox9tm1Gsr/Sox9tm1Gsr involves: 129P2/OlaHsd * 129S1/SvImJ * NMRI MGI:4849536
cn2
Sox9tm1Gsr/Sox9tm1Gsr
Tg(SFTPC-rtTA)5Jaw/0
Tg(tetO-cre)1Jaw/0
involves: 129 * 129P2/OlaHsd * C57BL/6 MGI:4888973
cn3
Sox9tm1Gsr/Sox9tm1Gsr
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129P2/OlaHsd MGI:5557988
cn4
Sox9tm1Gsr/Sox9tm1Gsr
Krt19tm1(cre)Mmt/Krt19+
involves: 129P2/OlaHsd * C57BL/6 MGI:3639700
cn5
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
involves: 129P2/OlaHsd * C57BL/6 MGI:5426540
cn6
Sox9tm1Gsr/Sox9+
Tg(Pdx1-cre)6Cvw/0
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA * FVB/N MGI:3817221
cn7
Sox9tm1Gsr/Sox9+
Tg(Pax3-cre)1Joe/0
involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL MGI:4849537
cn8
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Pax3-cre)1Joe/0
involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL MGI:4849538
cn9
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Tek-cre)1Ywa/0
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:3710208
cn10
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Col2a1-cre)1Bhr/0
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:3710214
cn11
Sox9tm1Gsr/Sox9+
Tg(Col2a1-cre)1Bhr/0
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:3710216


Genotype
MGI:4849536
cn1
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Genetic
Background
involves: 129P2/OlaHsd * 129S1/SvImJ * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• bladder morphology is normal (J:166547)
• bladder morphology is normal (J:166547)
• ureters are deficient in smooth muscle cells compared to in wild-type mice (J:166547)
• the composition of ureter extracellular matrix is altered compared to in wild-type mice (J:166547)
• however, ureteric mesenchyme condensation and differentiation are normal (J:166547)
• ureters are deficient in smooth muscle cells compared to in wild-type mice (J:166547)
• the composition of ureter extracellular matrix is altered compared to in wild-type mice (J:166547)
• however, ureteric mesenchyme condensation and differentiation are normal (J:166547)
• ureters are deficient in smooth muscle cells compared to in wild-type mice (J:166547)
• ureters are deficient in smooth muscle cells compared to in wild-type mice (J:166547)
• at E18.5 (J:166547)
• at E18.5 (J:166547)
• bilateral in 94% of mice at E18.5 (J:166547)
• unilateral in 6% of mice at E18.5 (J:166547)
• bilateral in 94% of mice at E18.5 (J:166547)
• unilateral in 6% of mice at E18.5 (J:166547)
• cultured ureter explants from E15.5 embryos loses cohesive structure and disperses unlike wild-type explants (J:166547)
• however, cell proliferation and apoptosis of ureteric mesenchyme are normal (J:166547)
• cultured ureter explants from E15.5 embryos loses cohesive structure and disperses unlike wild-type explants (J:166547)
• however, cell proliferation and apoptosis of ureteric mesenchyme are normal (J:166547)

limbs/digits/tail
• at E18.5, mice exhibit rudimentary limbs compared with wild-type mice (J:166547)
• at E18.5, mice exhibit rudimentary limbs compared with wild-type mice (J:166547)
• at E18.5, mice exhibit tail truncation compared with wild-type mice (J:166547)
• at E18.5, mice exhibit tail truncation compared with wild-type mice (J:166547)

embryogenesis
• at E18.5, mice exhibit shortened body axis compared with wild-type mice (J:166547)
• at E18.5, mice exhibit shortened body axis compared with wild-type mice (J:166547)




Genotype
MGI:4888973
cn2
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Tg(SFTPC-rtTA)5Jaw/0
Tg(tetO-cre)1Jaw/0
Genetic
Background
involves: 129 * 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
Tg(SFTPC-rtTA)5Jaw mutation (3 available)
Tg(tetO-cre)1Jaw mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
N
• mice treated with doxycycline from E0.5 display normal postnatal survival and normal lung morphology with no detectable changes in the cellular differentiation or development of peripheral lung epithelium at all stages analyzed (E12.5 to adulthood) (J:95910)
• mice treated with doxycycline from E0.5 display normal postnatal survival and normal lung morphology with no detectable changes in the cellular differentiation or development of peripheral lung epithelium at all stages analyzed (E12.5 to adulthood) (J:95910)

homeostasis/metabolism
N
• mice treated with doxycycline from E0.5 display normal survival and repair after hyperoxia-induced lung injury (95% oxygen for 3 days) relative to control littermates (J:95910)
• mice treated with doxycycline from E0.5 display normal survival and repair after hyperoxia-induced lung injury (95% oxygen for 3 days) relative to control littermates (J:95910)




Genotype
MGI:5557988
cn3
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (25 available)
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 1 of 3 pups died at birth (J:202984)
• 1 of 3 pups died at birth (J:202984)
• the 2 pups that survived past birth had to be euthanized by P7 (J:202984)
• the 2 pups that survived past birth had to be euthanized by P7 (J:202984)

respiratory system
• cultured lungs from E12.5 embryos show a significant reduction in branching (J:202984)
• branch tips are larger and rounder and lead to large open spaces in the lung (J:202984)
• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium (J:202984)
• cultured lungs from E12.5 embryos show a significant reduction in branching (J:202984)
• branch tips are larger and rounder and lead to large open spaces in the lung (J:202984)
• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium (J:202984)
• distal epithelial tips show a range of defects including absence of microvilli, apical membranous blebs and disrupted cell-cell adhesion (J:202984)
• the basal epithelial surface is not uniform and many cells have a rounded appearance with membranous blebs projecting into the subcellular space (J:202984)
• the extracellular matrix and stabilized tubulin appear disrupted at the basal surfaces (J:202984)
• distal epithelial tips show a range of defects including absence of microvilli, apical membranous blebs and disrupted cell-cell adhesion (J:202984)
• the basal epithelial surface is not uniform and many cells have a rounded appearance with membranous blebs projecting into the subcellular space (J:202984)
• the extracellular matrix and stabilized tubulin appear disrupted at the basal surfaces (J:202984)
• noticeable by E14.5 and more significant by E16.5 (J:202984)
• noticeable by E14.5 and more significant by E16.5 (J:202984)
• develop large, cyst-like structures at the distal epithelial branch tips that are the result of larger, rounder branch tips (J:202984)
• develop large, cyst-like structures at the distal epithelial branch tips that are the result of larger, rounder branch tips (J:202984)
• pups that survive birth have difficulty breathing (J:202984)
• pups that survive birth have difficulty breathing (J:202984)

cellular
• apparent precocious differentiation of distal tip progenitor cells into type 2 alveolar cells at E14.5 (J:202984)
• apparent precocious differentiation of distal tip progenitor cells into type 2 alveolar cells at E14.5 (J:202984)
• migration of epithelial cells from cultured E12.5 lung buds is decreased compared to controls (J:202984)
• migration of epithelial cells from cultured E12.5 lung buds is decreased compared to controls (J:202984)
• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium (J:202984)
• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium (J:202984)




Genotype
MGI:3639700
cn4
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Krt19tm1(cre)Mmt/Krt19+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Krt19tm1(cre)Mmt mutation (0 available); any Krt19 mutation (2 available)
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• recover only about 1/8 of the expected number of embryos after E11.5, however some survive up to E15.5 (J:104330)
• recover only about 1/8 of the expected number of embryos after E11.5, however some survive up to E15.5 (J:104330)

reproductive system
• Leydig cells do not form (J:104330)
• Leydig cells do not form (J:104330)
• failure of testis differentiation is apparent at E12.5 (J:104330)
• failure of testis differentiation is apparent at E12.5 (J:104330)
• lack of testis cord formation (J:104330)
• lack of testis cord formation (J:104330)
• XY gonads up to E15.5 show immediate complete sex reversal as indicated by the expression of early ovary-specific markers and lack of testis cord and Leydig cell formation (J:104330)
• 2 of 11 embryos form a completely sex-reversed gonad on one side and an ovotestis on the contralateral side (J:104330)
• XY gonads up to E15.5 show immediate complete sex reversal as indicated by the expression of early ovary-specific markers and lack of testis cord and Leydig cell formation (J:104330)
• 2 of 11 embryos form a completely sex-reversed gonad on one side and an ovotestis on the contralateral side (J:104330)

cardiovascular system

skeleton
• display a reduction in all cartilage anlagen (J:104330)
• display a reduction in all cartilage anlagen (J:104330)

endocrine/exocrine glands
• Leydig cells do not form (J:104330)
• Leydig cells do not form (J:104330)
• failure of testis differentiation is apparent at E12.5 (J:104330)
• failure of testis differentiation is apparent at E12.5 (J:104330)
• lack of testis cord formation (J:104330)
• lack of testis cord formation (J:104330)

embryogenesis
• absence of Mullerian duct regression in males (J:104330)
• absence of Mullerian duct regression in males (J:104330)
• display a reduction in cranial neural crest cell-derived tissue (J:104330)
• display a reduction in cranial neural crest cell-derived tissue (J:104330)

nervous system
• display a reduction in cranial neural crest cell-derived tissue (J:104330)
• display a reduction in cranial neural crest cell-derived tissue (J:104330)




Genotype
MGI:5426540
cn5
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• with doxycycline treatment from E15.5 on, columnar zones are shortened in growth plates of mutants (J:183084)
• with doxycycline treatment from E15.5 on, columnar zones are shortened in growth plates of mutants (J:183084)
• with doxycycline treatment from E15.5 onward, severe dwarfism results (J:183084)
• with doxycycline treatment from E15.5 onward, severe dwarfism results (J:183084)
• endochondral bones stop elongating by E17.5 with doxycycline treatment from E15.5 onward (J:183084)
• endochondral bones stop elongating by E17.5 with doxycycline treatment from E15.5 onward (J:183084)
• chondrocytes lose ability to enlarge by E17.5 when doxycycline treatment takes place from E15.5 onward (J:183084)
• columnar cells stop proliferating at a rate 3 times greater than control cells with doxycycline treatment starting at E15.5; number of apoptotic cells in the columnar zone of growth plates is about 28 fold higher and about 5 times higher in the prehypertrophic zone of controls with 2 days of doxycycline treatment (J:183084)
• chondrocytes lose ability to enlarge by E17.5 when doxycycline treatment takes place from E15.5 onward (J:183084)
• columnar cells stop proliferating at a rate 3 times greater than control cells with doxycycline treatment starting at E15.5; number of apoptotic cells in the columnar zone of growth plates is about 28 fold higher and about 5 times higher in the prehypertrophic zone of controls with 2 days of doxycycline treatment (J:183084)




Genotype
MGI:3817221
cn6
Allelic
Composition
Sox9tm1Gsr/Sox9+
Tg(Pdx1-cre)6Cvw/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
Tg(Pdx1-cre)6Cvw mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
N
• despite islet cell hypoplasia, pancreas size, weight, morphology and pancreatic exocrine differentiation are normal at E18.5 (J:141017)
• despite islet cell hypoplasia, pancreas size, weight, morphology and pancreatic exocrine differentiation are normal at E18.5 (J:141017)
• at E18.5, the numbers of polypeptide producing cells are reduced compared to wild-type mice (J:141017)
• at E18.5, the numbers of polypeptide producing cells are reduced compared to wild-type mice (J:141017)
• at E18.5, alpha cell mass is reduced 55% compared to in wild-type mice (J:141017)
• at E18.5, alpha cell mass is reduced 55% compared to in wild-type mice (J:141017)
• at E18.5, beta cell mass is reduced 57% compared to in wild-type mice (J:141017)
• however, beta cell differentiation is normal (J:141017)
• at E18.5, beta cell mass is reduced 57% compared to in wild-type mice (J:141017)
• however, beta cell differentiation is normal (J:141017)
• at E18.5, delta cell numbers are decreased compared to in wild-type mice (J:141017)
• at E18.5, delta cell numbers are decreased compared to in wild-type mice (J:141017)
• mice exhibit islet hyperplasia (J:141017)
• mice exhibit islet hyperplasia (J:141017)
• the number of pancreatic endocrine progenitor cells is 2-fold less than in wild-type mice due to decreased cell proliferation of endocrine progenitor cells (J:141017)
• however, exocrine progenitor cells are normal in number and proliferation (J:141017)
• the number of pancreatic endocrine progenitor cells is 2-fold less than in wild-type mice due to decreased cell proliferation of endocrine progenitor cells (J:141017)
• however, exocrine progenitor cells are normal in number and proliferation (J:141017)
• pancreatic glucagons is reduced 34.9% compared to in wild-type (J:141017)
• pancreatic glucagons is reduced 34.9% compared to in wild-type (J:141017)
• pancreatic insulin production is decreased 44% compared to in wild-type mice (J:141017)
• pancreatic insulin production is decreased 44% compared to in wild-type mice (J:141017)

digestive/alimentary system
N
• despite islet cell hypoplasia, pancreas size, weight, morphology and pancreatic exocrine differentiation are normal at E18.5 (J:141017)
• despite islet cell hypoplasia, pancreas size, weight, morphology and pancreatic exocrine differentiation are normal at E18.5 (J:141017)

homeostasis/metabolism
• pancreatic glucagons is reduced 34.9% compared to in wild-type (J:141017)
• pancreatic glucagons is reduced 34.9% compared to in wild-type (J:141017)
• pancreatic insulin production is decreased 44% compared to in wild-type mice (J:141017)
• pancreatic insulin production is decreased 44% compared to in wild-type mice (J:141017)

Mouse Models of Human Disease
OMIM ID Ref(s)
Campomelic Dysplasia 114290 J:141017




Genotype
MGI:4849537
cn7
Allelic
Composition
Sox9tm1Gsr/Sox9+
Tg(Pax3-cre)1Joe/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
Tg(Pax3-cre)1Joe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• bilateral in 4% of mice at E18.5 (J:166547)
• unilateral in 25% of mice at E18.5 (J:166547)
• bilateral in 4% of mice at E18.5 (J:166547)
• unilateral in 25% of mice at E18.5 (J:166547)
• in 5% of mice t E18.5 (J:166547)
• in 5% of mice t E18.5 (J:166547)




Genotype
MGI:4849538
cn8
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Pax3-cre)1Joe/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
Tg(Pax3-cre)1Joe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• ureters are deficient in smooth muscle cells compared to in wild-type mice (J:166547)
• the composition of ureter extracellular matrix is altered compared to in wild-type mice (J:166547)
• however, ureteric mesenchyme condensation and differentiation are normal (J:166547)
• ureters are deficient in smooth muscle cells compared to in wild-type mice (J:166547)
• the composition of ureter extracellular matrix is altered compared to in wild-type mice (J:166547)
• however, ureteric mesenchyme condensation and differentiation are normal (J:166547)
• ureters are deficient in smooth muscle cells compared to in wild-type mice (J:166547)
• ureters are deficient in smooth muscle cells compared to in wild-type mice (J:166547)
• at E18.5 (J:166547)
• at E18.5 (J:166547)
• bilateral in 28% of mice at E18.5 (J:166547)
• unilateral in 34% of mice at E18.5 (J:166547)
• bilateral in 28% of mice at E18.5 (J:166547)
• unilateral in 34% of mice at E18.5 (J:166547)
• in 72% of mice at E18.5 (J:166547)
• in 72% of mice at E18.5 (J:166547)
• cultured ureter explants from E15.5 embryos exhibit only mediocre elongation and weak peristaltic activity compared with wild-type explants (J:166547)
• cultured ureter explants from E15.5 embryos exhibit only mediocre elongation and weak peristaltic activity compared with wild-type explants (J:166547)

limbs/digits/tail
• at E18.5, mice exhibit rudimentary limbs compared with wild-type mice (J:166547)
• at E18.5, mice exhibit rudimentary limbs compared with wild-type mice (J:166547)
• at E18.5, mice exhibit tail truncation compared with wild-type mice (J:166547)
• at E18.5, mice exhibit tail truncation compared with wild-type mice (J:166547)

embryogenesis
• at E18.5, mice exhibit shortened body axis compared with wild-type mice (J:166547)
• at E18.5, mice exhibit shortened body axis compared with wild-type mice (J:166547)




Genotype
MGI:3710208
cn9
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
Tg(Tek-cre)1Ywa mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die between E11.5 and E14.5 (J:121352)
• die between E11.5 and E14.5 (J:121352)

cardiovascular system
• in the atrioventricular canal, there is malalignment of the atrial septum, although the septum does meet the endocardial cushions in more distal areas (J:121352)
• in the atrioventricular canal, there is malalignment of the atrial septum, although the septum does meet the endocardial cushions in more distal areas (J:121352)
• endocardial cushions are hypoplastic and fail to elongate and form atrioventricular valve primordia at E13.5 (J:121352)
• at E12.5, cell proliferation within the endocardial cushion is reduced by 75% (J:121352)
• endocardial cushions are hypoplastic and fail to elongate and form atrioventricular valve primordia at E13.5 (J:121352)
• at E12.5, cell proliferation within the endocardial cushion is reduced by 75% (J:121352)
• endocardial cushions within the outflow tract appear grossly reduced in size (J:121352)
• endocardial cushions within the outflow tract appear grossly reduced in size (J:121352)
• incomplete formation of the atrial septum (J:121352)
• incomplete formation of the atrial septum (J:121352)
• defects in valve maturation (J:121352)
• defects in valve maturation (J:121352)
• atrioventricular valve primordia do not form at E13.5 (J:121352)
• atrioventricular valve primordia do not form at E13.5 (J:121352)
• mutants exhibit increased blood pooling (J:121352)
• mutants exhibit increased blood pooling (J:121352)

homeostasis/metabolism




Genotype
MGI:3710214
cn10
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Col2a1-cre)1Bhr/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die at birth (J:121352)
• die at birth (J:121352)

cardiovascular system
• width of the interventricular septum is increased (J:121352)
• width of the interventricular septum is increased (J:121352)
• heart valve leaflets are thickened at E18.5 (J:121352)
• abnormal organization of the stratified extracellular matrix layers within the valve leaflets (J:121352)
• heart valve leaflets are thickened at E18.5 (J:121352)
• abnormal organization of the stratified extracellular matrix layers within the valve leaflets (J:121352)

respiratory system
• respiratory defects (J:121352)
• respiratory defects (J:121352)




Genotype
MGI:3710216
cn11
Allelic
Composition
Sox9tm1Gsr/Sox9+
Tg(Col2a1-cre)1Bhr/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (10 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• from 3 months of age, heart valve leaflets are thickened (J:121352)
• 75% of mutants, starting at 3 months of age, show mineral deposits in atrioventricular and outflow tract heart valve leaflets compared to 37.5% of controls (J:121352)
• the outflow tract valve leaflet area is greater than in controls and is associated with an increase in proteoglycans at the tip of the valve leaflets (J:121352)
• from 3 months of age, heart valve leaflets are thickened (J:121352)
• 75% of mutants, starting at 3 months of age, show mineral deposits in atrioventricular and outflow tract heart valve leaflets compared to 37.5% of controls (J:121352)
• the outflow tract valve leaflet area is greater than in controls and is associated with an increase in proteoglycans at the tip of the valve leaflets (J:121352)
• the atrioventricular valve leaflet area is greater than in controls and is associated with an increase in proteoglycans at the tip of the valve leaflets (J:121352)
• the atrioventricular valve leaflet area is greater than in controls and is associated with an increase in proteoglycans at the tip of the valve leaflets (J:121352)
• adult mitral valves show calcium deposits (J:121352)
• adult mitral valves show calcium deposits (J:121352)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory