All Phenotypes Sox9<tm1Gsr> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Sox9^tm1Gsr
targeted mutation 1, Gerd Scherer
MGI:2385468

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Sox9^tm1Gsr/Sox9^tm1Gsr	involves: 129P2/OlaHsd * 129S1/SvImJ * NMRI	MGI:4849536
cn2	Sox9^tm1Gsr/Sox9^tm1Gsr Tg(SFTPC-rtTA)5Jaw/0 Tg(tetO-cre)1Jaw/0	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:4888973
cn3	Sox9^tm1Gsr/Sox9^tm1Gsr Shh^{tm1(EGFP/cre)Cjt}/Shh⁺	involves: 129P2/OlaHsd	MGI:5557988
cn4	Sox9^tm1Gsr/Sox9^tm1Gsr Krt19^tm1(cre)Mmt/Krt19⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3639700
cn5	Sox9^tm1Gsr/Sox9^tm1Gsr Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0	involves: 129P2/OlaHsd * C57BL/6	MGI:5426540
cn6	Sox9^tm1Gsr/Sox9⁺ Tg(Pdx1-cre)6Cvw/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA * FVB/N	MGI:3817221
cn7	Sox9^tm1Gsr/Sox9⁺ Tg(Pax3-cre)1Joe/0	involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL	MGI:4849537
cn8	Sox9^tm1Gsr/Sox9^tm1Gsr Tg(Pax3-cre)1Joe/0	involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL	MGI:4849538
cn9	Sox9^tm1Gsr/Sox9⁺ Tg(Col2a1-cre)1Bhr/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3710216
cn10	Sox9^tm1Gsr/Sox9^tm1Gsr Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3710208
cn11	Sox9^tm1Gsr/Sox9^tm1Gsr Tg(Col2a1-cre)1Bhr/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3710214

Allelic Composition	Sox9^tm1Gsr/Sox9^tm1Gsr
Genetic Background	involves: 129P2/OlaHsd * 129S1/SvImJ * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)

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

renal/urinary system

renal/urinary system phenotype ( J:166547 )

N	• bladder morphology is normal

abnormal ureter morphology ( J:166547 )

• ureters are deficient in smooth muscle cells compared to in wild-type mice

• the composition of ureter extracellular matrix is altered compared to in wild-type mice

• however, ureteric mesenchyme condensation and differentiation are normal

abnormal ureter smooth muscle morphology ( J:166547 )

• ureters are deficient in smooth muscle cells compared to in wild-type mice

dilated ureter ( J:166547 )

• at E18.5

hydroureter ( J:166547 )

• bilateral in 94% of mice at E18.5

• unilateral in 6% of mice at E18.5

abnormal ureter physiology ( J:166547 )

• cultured ureter explants from E15.5 embryos loses cohesive structure and disperses unlike wild-type explants

• however, cell proliferation and apoptosis of ureteric mesenchyme are normal

limbs/digits/tail

abnormal limb development ( J:166547 )

• at E18.5, mice exhibit rudimentary limbs compared with wild-type mice

short tail ( J:166547 )

• at E18.5, mice exhibit tail truncation compared with wild-type mice

embryo

abnormal rostral-caudal body axis extension ( J:166547 )

• at E18.5, mice exhibit shortened body axis compared with wild-type mice

Allelic Composition	Sox9^tm1Gsr/Sox9^tm1Gsr 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:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(SFTPC-rtTA)5Jaw mutation (4 available)
Tg(tetO-cre)1Jaw mutation (6 available)

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

respiratory system

respiratory system phenotype ( J:95910 )

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)

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:95910 )

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

Allelic Composition	Sox9^tm1Gsr/Sox9^tm1Gsr Shh^{tm1(EGFP/cre)Cjt}/Shh⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shh^{tm1(EGFP/cre)Cjt} mutation (1 available); any Shh mutation (48 available)
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:202984 )

• the 2 pups that survived past birth had to be euthanized by P7

perinatal lethality, incomplete penetrance ( J:202984 )

• 1 of 3 pups died at birth

respiratory system

lung cyst ( J:202984 )

• develop large, cyst-like structures at the distal epithelial branch tips that are the result of larger, rounder branch tips

abnormal branching involved in lung morphogenesis ( J:202984 )

• cultured lungs from E12.5 embryos show a significant reduction in branching

• branch tips are larger and rounder and lead to large open spaces in the lung

• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium

abnormal lung epithelium morphology ( J:202984 )

• distal epithelial tips show a range of defects including absence of microvilli, apical membranous blebs and disrupted cell-cell adhesion

• the basal epithelial surface is not uniform and many cells have a rounded appearance with membranous blebs projecting into the subcellular space

• the extracellular matrix and stabilized tubulin appear disrupted at the basal surfaces

small lung ( J:202984 )

• noticeable by E14.5 and more significant by E16.5

respiratory distress ( J:202984 )

• pups that survive birth have difficulty breathing

cellular

abnormal cell differentiation ( J:202984 )

• apparent precocious differentiation of distal tip progenitor cells into type 2 alveolar cells at E14.5

decreased cell migration ( J:202984 )

• migration of epithelial cells from cultured E12.5 lung buds is decreased compared to controls

decreased cell proliferation ( J:202984 )

• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium

growth/size/body

lung cyst ( J:202984 )

• develop large, cyst-like structures at the distal epithelial branch tips that are the result of larger, rounder branch tips

Allelic Composition	Sox9^tm1Gsr/Sox9^tm1Gsr Krt19^tm1(cre)Mmt/Krt19⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Krt19^tm1(cre)Mmt mutation (0 available); any Krt19 mutation (21 available)
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:104330 )

• recover only about 1/8 of the expected number of embryos after E11.5, however some survive up to E15.5

reproductive system

abnormal testis development ( J:104330 )

• failure of testis differentiation is apparent at E12.5

absent testis cords ( J:104330 )

• lack of testis cord formation

absent Leydig cells ( J:104330 )

• Leydig cells do not form

primary sex reversal ( 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

• 2 of 11 embryos form a completely sex-reversed gonad on one side and an ovotestis on the contralateral side

cardiovascular system

heart hypoplasia ( J:104330 )

skeleton

abnormal cartilage development ( J:104330 )

• display a reduction in all cartilage anlagen

endocrine/exocrine glands

abnormal testis development ( J:104330 )

• failure of testis differentiation is apparent at E12.5

absent testis cords ( J:104330 )

• lack of testis cord formation

absent Leydig cells ( J:104330 )

• Leydig cells do not form

embryo

failure of Mullerian duct regression ( J:104330 )

• absence of Mullerian duct regression in males

impaired cranial neural crest cell differentiation ( J:104330 )

• display a reduction in cranial neural crest cell-derived tissue

nervous system

impaired cranial neural crest cell differentiation ( J:104330 )

• display a reduction in cranial neural crest cell-derived tissue

Allelic Composition	Sox9^tm1Gsr/Sox9^tm1Gsr 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:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf mutation (0 available)

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

skeleton

abnormal epiphyseal plate morphology ( J:183084 )

• with doxycycline treatment from E15.5 on, columnar zones are shortened in growth plates of mutants

chondrodystrophy ( J:183084 )

• with doxycycline treatment from E15.5 onward, severe dwarfism results

abnormal endochondral bone ossification ( J:183084 )

• endochondral bones stop elongating by E17.5 with doxycycline treatment from E15.5 onward

abnormal chondrocyte physiology ( J:183084 )

• chondrocytes lose ability to enlarge by E17.5 when doxycycline treatment takes place from E15.5 onward

• 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

Allelic Composition	Sox9^tm1Gsr/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:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(Pdx1-cre)6Cvw mutation (0 available)

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

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:141017 )

N	• despite islet cell hypoplasia, pancreas size, weight, morphology and pancreatic exocrine differentiation are normal at E18.5

decreased PP cell number ( J:141017 )

• at E18.5, the numbers of polypeptide producing cells are reduced compared to wild-type mice

decreased pancreatic alpha cell mass ( J:141017 )

• at E18.5, alpha cell mass is reduced 55% compared to in wild-type mice

decreased pancreatic beta cell mass ( J:141017 )

• at E18.5, beta cell mass is reduced 57% compared to in wild-type mice

• however, beta cell differentiation is normal

decreased pancreatic delta cell number ( J:141017 )

• at E18.5, delta cell numbers are decreased compared to in wild-type mice

pancreatic islet hyperplasia ( J:141017 )

• mice exhibit islet hyperplasia

abnormal pancreas development ( 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

• however, exocrine progenitor cells are normal in number and proliferation

decreased glucagon secretion ( J:141017 )

• pancreatic glucagons is reduced 34.9% compared to in wild-type

decreased insulin secretion ( J:141017 )

• pancreatic insulin production is decreased 44% compared to in wild-type mice

digestive/alimentary system

digestive/alimentary phenotype ( J:141017 )

N	• despite islet cell hypoplasia, pancreas size, weight, morphology and pancreatic exocrine differentiation are normal at E18.5

homeostasis/metabolism

decreased glucagon secretion ( J:141017 )

• pancreatic glucagons is reduced 34.9% compared to in wild-type

decreased insulin secretion ( J:141017 )

• pancreatic insulin production is decreased 44% compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:141017

Allelic Composition	Sox9^tm1Gsr/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:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

hydroureter ( J:166547 )

• bilateral in 4% of mice at E18.5

• unilateral in 25% of mice at E18.5

distended urinary bladder ( J:166547 )

• in 5% of mice t E18.5

Allelic Composition	Sox9^tm1Gsr/Sox9^tm1Gsr 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:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

impaired ureteric peristalsis ( J:166547 )

• cultured ureter explants from E15.5 embryos exhibit only mediocre elongation and weak peristaltic activity compared with wild-type explants

abnormal ureter morphology ( J:166547 )

• ureters are deficient in smooth muscle cells compared to in wild-type mice

• the composition of ureter extracellular matrix is altered compared to in wild-type mice

• however, ureteric mesenchyme condensation and differentiation are normal

abnormal ureter smooth muscle morphology ( J:166547 )

• ureters are deficient in smooth muscle cells compared to in wild-type mice

dilated ureter ( J:166547 )

• at E18.5

hydroureter ( J:166547 )

• bilateral in 28% of mice at E18.5

• unilateral in 34% of mice at E18.5

distended urinary bladder ( J:166547 )

• in 72% of mice at E18.5

limbs/digits/tail

abnormal limb development ( J:166547 )

• at E18.5, mice exhibit rudimentary limbs compared with wild-type mice

short tail ( J:166547 )

• at E18.5, mice exhibit tail truncation compared with wild-type mice

embryo

abnormal rostral-caudal body axis extension ( J:166547 )

• at E18.5, mice exhibit shortened body axis compared with wild-type mice

muscle

impaired ureteric peristalsis ( J:166547 )

• cultured ureter explants from E15.5 embryos exhibit only mediocre elongation and weak peristaltic activity compared with wild-type explants

Allelic Composition	Sox9^tm1Gsr/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:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)

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

cardiovascular system

abnormal heart valve morphology ( 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

abnormal atrioventricular valve morphology ( 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

calcified mitral valve ( J:121352 )

• adult mitral valves show calcium deposits

abnormal semilunar valve morphology ( 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

thick heart valve cusps ( J:121352 )

• from 3 months of age, heart valve leaflets are thickened

Allelic Composition	Sox9^tm1Gsr/Sox9^tm1Gsr 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:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(Tek-cre)1Ywa mutation (6 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:121352 )

• die between E11.5 and E14.5

cardiovascular system

conotruncal ridge hypoplasia ( J:121352 )

• endocardial cushions within the outflow tract appear grossly reduced in size

abnormal fetal atrioventricular canal morphology ( 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

abnormal atrioventricular cushion morphology ( J:121352 )

• endocardial cushions are hypoplastic and fail to elongate and form atrioventricular valve primordia at E13.5

• at E12.5, cell proliferation within the endocardial cushion is reduced by 75%

abnormal heart valve development ( J:121352 )

• defects in valve maturation

abnormal atrioventricular valve development ( J:121352 )

• atrioventricular valve primordia do not form at E13.5

abnormal interatrial septum morphology ( J:121352 )

• incomplete formation of the atrial septum

pericardial edema ( J:121352 )

abnormal blood circulation ( J:121352 )

• mutants exhibit increased blood pooling

homeostasis/metabolism

pericardial edema ( J:121352 )

Allelic Composition	Sox9^tm1Gsr/Sox9^tm1Gsr 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:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:121352 )

• die at birth

cardiovascular system

thick interventricular septum ( J:121352 )

• width of the interventricular septum is increased

abnormal heart valve morphology ( J:121352 )

• heart valve leaflets are thickened at E18.5

• abnormal organization of the stratified extracellular matrix layers within the valve leaflets

abnormal mitral valve morphology ( J:121352 )

abnormal tricuspid valve morphology ( J:121352 )

respiratory system

abnormal respiration ( J:121352 )

• respiratory defects

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