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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Sox9
SRY (sex determining region Y)-box 9
MGI:98371
211 phenotypes from 18 alleles in 32 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Col10a1tm1(cre)Haak/Col10a1+
Tg(CAG-mRFP1,-SOX9,-EGFP)1Haak/0
involves: 129S6/SvEvTac * C57BL/6 		abnormal bone mineralization J:176952
abnormal chondrocyte physiology J:176952
abnormal endochondral bone ossification J:176952
Gt(ROSA)26Sortm1(tetO-Sox9)Msan/Gt(ROSA)26Sor+
Tg(SFTPC-rtTA)5Jaw/0
Not Specified 		abnormal cell differentiation J:202984
abnormal pulmonary alveolus epithelium morphology J:202984
perinatal lethality, complete penetrance J:202984
Gt(ROSA)26Sortm1(tetO-Sox9)Msan/Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S1/Sv * 129X1/SvJ 		abnormal lung morphology J:202984
lung cyst J:202984
small lung J:202984
Hprt1tm1(CAG-Sox9,-EGFP)Akis/Y
Tbx18tm4(cre)Akis/Tbx18+
involves: 129/Sv * 129S1/SvImJ * NMRI 		abnormal ureter morphology J:166547
abnormal ureter smooth muscle morphology J:166547
Shhtm1(EGFP/cre)Cjt/Shh+
Sox9tm2Crm/Sox9tm2Crm
B6.Cg-Shhtm1(EGFP/cre)Cjt Sox9tm2Crm 		abnormal primitive urogenital sinus morphology J:281428
Sox9Bbfc/Sox9+
C57BL/6J-Sox9Bbfc/GrsrJ 		abnormal head shape J:223062
decreased body weight J:223062
decreased cranium length J:223062
decreased percent body fat/body weight J:223062
decreased total body fat amount J:223062
domed cranium J:223062
normal hearing/vestibular/ear phenotype J:223062
normal reproductive system phenotype J:223062
short maxilla J:223062
short snout J:223062
shortened head J:223062
normal vision/eye phenotype J:223062
Sox9Bbfc/Sox9Bbfc
C57BL/6J-Sox9Bbfc/GrsrJ 		embryonic lethality prior to organogenesis J:223062
embryonic lethality, complete penetrance J:223062
Sox9tm1(cre/ERT2)Haak/Sox9+
B6.129S7-Sox9tm1(cre/ERT2)Haak 		no abnormal phenotype detected J:166624
Sox9tm1(cre/ERT2)Haak/Sox9tm1(cre/ERT2)Haak
B6.129S7-Sox9tm1(cre/ERT2)Haak 		no abnormal phenotype detected J:166624
Sox9tm1.1Gsr/Sox9+
involves: 129P2/OlaHsd * C57BL/6 		abnormal bone mineralization J:75124
abnormal humerus morphology J:75124
abnormal skeleton development J:75124
absent deltoid tuberosity J:75124
cleft secondary palate J:75124
neonatal lethality, complete penetrance J:75124
scapular bone hypoplasia J:75124
Sox9tm1.1Gsr/Sox9+
involves: 129S4/SvJae * CD-1 		decreased pancreatic alpha cell mass J:141017
decreased pancreatic beta cell mass J:141017
decreased pancreatic delta cell number J:141017
decreased PP cell number J:141017
normal digestive/alimentary phenotype J:141017
normal endocrine/exocrine gland phenotype J:141017
pancreatic islet hyperplasia J:141017
Sox9tm1.1Ksec/Sox9+
Tg(Rr141-cre)1Ksec/0
involves: 129S/SvEv * C57BL/6 * CBA 		abnormal otolith morphology J:332093
abnormal placing response J:332093
circling J:332093
decreased endocochlear potential J:332093
dilated cochlea J:332093
dilated endolymphatic duct J:332093
dilated scala media J:332093
head tilt J:332093
head tossing J:332093
normal hearing/vestibular/ear phenotype J:332093
hyperactivity J:332093
impaired righting response J:332093
nonsyndromic hearing impairment J:332093
positive geotaxis J:332093
small scala tympani J:332093
Sox9tm1.1Ksec/Sox9tm1.1Ksec
Not Specified 		normal behavior/neurological phenotype J:332093
normal growth/size/body region phenotype J:332093
normal reproductive system phenotype J:332093
Sox9tm1.2Ksec/Sox9+
involves: 129S/SvEv * C57BL/6 * FVB/N 		abnormal endolymphatic duct morphology J:332093
chondrodystrophy J:332093
circling J:332093
impaired swimming J:332093
kinked tail J:332093
perinatal lethality J:332093
Sox9tm1.2Ksec/Sox9tm1.2Ksec
involves: 129S/SvEv * C57BL/6 * FVB/N 		prenatal lethality, complete penetrance J:332093
Sox9tm1Crm/Sox9+
involves: 129S7/SvEvBrd * C57BL/6 * CD-1 		abnormal bone mineralization J:69875
abnormal cartilage development J:69875
abnormal hyoid bone morphology J:69875
abnormal ilium morphology J:69875
abnormal ischium morphology J:69875
abnormal laryngeal cartilage morphology J:69875
abnormal long bone morphology J:69875
abnormal Meckel's cartilage morphology J:69875
abnormal pubis morphology J:69875
abnormal scapula morphology J:69875
abnormal scapular spine morphology J:69875
abnormal skeleton development J:69875
abnormal sternebra morphology J:69875
abnormal sternum morphology J:69875
abnormal tail morphology J:69875
abnormal tracheal cartilage morphology J:69875
abnormal xiphoid process morphology J:69875
absent deltoid tuberosity J:69875
bifurcated tongue J:69875
bilateral cleft palate J:69875
bowed radius J:69875
bowed tibia J:69875
bowed ulna J:69875
cleft secondary palate J:69875
increased width of hypertrophic chondrocyte zone J:69875
meteorism J:69875
micrognathia J:69875
neonatal lethality, complete penetrance J:69875
respiratory distress J:69875
short mandible J:69875
short sternum J:69875
small pubis J:69875
small scapula J:69875
small thoracic cage J:69875
Sox9tm1Gsr/Sox9+
Tg(Col2a1-cre)1Bhr/0
involves: 129P2/OlaHsd * C57BL/6 * SJL 		abnormal atrioventricular valve morphology J:121352
abnormal heart valve morphology J:121352
abnormal semilunar valve morphology J:121352
calcified mitral valve J:121352
thick heart valve cusps J:121352
Sox9tm1Gsr/Sox9+
Tg(Pax3-cre)1Joe/0
involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL 		distended urinary bladder J:166547
hydroureter J:166547
Sox9tm1Gsr/Sox9+
Tg(Pdx1-cre)6Cvw/0
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA * FVB/N 		abnormal pancreas development J:141017
decreased glucagon secretion J:141017
decreased insulin secretion J:141017
decreased pancreatic alpha cell mass J:141017
decreased pancreatic beta cell mass J:141017
decreased pancreatic delta cell number J:141017
decreased PP cell number J:141017
normal digestive/alimentary phenotype J:141017
normal endocrine/exocrine gland phenotype J:141017
pancreatic islet hyperplasia J:141017
Sox9tm1Gsr/Sox9tm1Gsr
involves: 129P2/OlaHsd * 129S1/SvImJ * NMRI 		abnormal limb development J:166547
abnormal rostral-caudal body axis extension J:166547
abnormal ureter morphology J:166547
abnormal ureter physiology J:166547
abnormal ureter smooth muscle morphology J:166547
dilated ureter J:166547
hydroureter J:166547
normal renal/urinary system phenotype J:166547
short tail J:166547
Sox9tm1Gsr/Sox9tm1Gsr
Krt19tm1(cre)Mmt/Krt19+
involves: 129P2/OlaHsd * C57BL/6 		abnormal cartilage development J:104330
abnormal testis development J:104330
absent Leydig cells J:104330
absent testis cords J:104330
embryonic lethality during organogenesis, incomplete penetrance J:104330
failure of Mullerian duct regression J:104330
heart hypoplasia J:104330
impaired cranial neural crest cell differentiation J:104330
primary sex reversal J:104330
Sox9tm1Gsr/Sox9tm1Gsr
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129P2/OlaHsd 		abnormal branching involved in lung morphogenesis J:202984
abnormal cell differentiation J:202984
abnormal lung epithelium morphology J:202984
decreased cell migration J:202984
decreased cell proliferation J:202984
lung cyst J:202984
perinatal lethality, incomplete penetrance J:202984
postnatal lethality, complete penetrance J:202984
respiratory distress J:202984
small lung J:202984
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Col2a1-cre)1Bhr/0
involves: 129P2/OlaHsd * C57BL/6 * SJL 		abnormal heart valve morphology J:121352
abnormal mitral valve morphology J:121352
abnormal respiration J:121352
abnormal tricuspid valve morphology J:121352
perinatal lethality, complete penetrance J:121352
thick interventricular septum J:121352
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
involves: 129P2/OlaHsd * C57BL/6 		abnormal chondrocyte physiology J:183084
abnormal endochondral bone ossification J:183084
abnormal epiphyseal plate morphology J:183084
chondrodystrophy J:183084
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Pax3-cre)1Joe/0
involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL 		abnormal limb development J:166547
abnormal rostral-caudal body axis extension J:166547
abnormal ureter morphology J:166547
abnormal ureter smooth muscle morphology J:166547
dilated ureter J:166547
distended urinary bladder J:166547
hydroureter J:166547
impaired ureteric peristalsis J:166547
short tail J:166547
Sox9tm1Gsr/Sox9tm1Gsr
Tg(SFTPC-rtTA)5Jaw/0
Tg(tetO-cre)1Jaw/0
involves: 129 * 129P2/OlaHsd * C57BL/6 		normal homeostasis/metabolism phenotype J:95910
normal respiratory system phenotype J:95910
Sox9tm1Gsr/Sox9tm1Gsr
Tg(Tek-cre)1Ywa/0
involves: 129P2/OlaHsd * C57BL/6 * SJL 		abnormal atrioventricular cushion morphology J:121352
abnormal atrioventricular valve development J:121352
abnormal blood circulation J:121352
abnormal fetal atrioventricular canal morphology J:121352
abnormal heart valve development J:121352
abnormal interatrial septum morphology J:121352
conotruncal ridge hypoplasia J:121352
embryonic lethality during organogenesis, complete penetrance J:121352
pericardial edema J:121352
Sox9tm1Haak/Sox9tm1Haak
involves: 129S/SvEv * C57BL/6J * Swiss 		no abnormal phenotype detected J:148405
Sox9tm2.1Crm/Sox9tm2.1Crm
involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * C57BL/6J 		abnormal primary sex determination J:89368
congestive heart failure J:89368
embryonic lethality during organogenesis, complete penetrance J:89368
Sox9tm2Crm/Sox9+
Tg(Col2a1-cre)1Bhr/0
involves: 129S7/SvEvBrd * C57BL/6 * SJL 		abnormal vertebrae morphology J:79879
disproportionate dwarf J:79879
kyphosis J:79879
postnatal lethality, incomplete penetrance J:79879
Sox9tm2Crm/Sox9+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S7/SvEvBrd * C57BL/6 * CBA 		abnormal craniofacial morphology J:84790
cleft secondary palate J:84790
Sox9tm2Crm/Sox9+
Tg(Prrx1-cre)1Cjt/0
involves: 129S7/SvEvBrd * C57BL/6J * SJL/J 		abnormal pelvic girdle bone morphology J:79879
bowed fibula J:79879
bowed radius J:79879
bowed tibia J:79879
bowed ulna J:79879
scapular bone hypoplasia J:79879
Sox9tm2Crm/Sox9+
Tg(Nr5a1-cre)5Asc/?
involves: 129S7/SvEvBrd * C57BL/6 * CBA 		disproportionate dwarf J:89368
neonatal lethality, incomplete penetrance J:89368
Sox9tm2Crm/Sox9+
Tg(Rr141-cre)1Ksec/0
involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * CBA 		normal hearing/vestibular/ear phenotype J:332093
Sox9tm2Crm/Sox9tm2Crm
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S7/SvEvBrd * C57BL/6 * CBA 		abnormal bone ossification J:84790
abnormal craniofacial bone morphology J:84790
abnormal craniofacial development J:84790
abnormal cranium morphology J:84790
abnormal hyoid bone morphology J:84790
abnormal skeleton development J:84790
absent basisphenoid bone J:84790
absent hyoid bone body J:84790
absent hyoid bone lesser horns J:84790
absent incus J:84790
absent malleus J:84790
absent Meckel's cartilage J:84790
absent nasal capsule J:84790
absent presphenoid bone J:84790
absent stapes J:84790
absent styloid process J:84790
absent thyroid cartilage J:84790
cleft secondary palate J:84790
domed cranium J:84790
neonatal lethality, complete penetrance J:84790
respiratory distress J:84790
short mandible J:84790
short snout J:84790
small mandible J:84790
Sox9tm2Crm/Sox9tm2Crm
Tg(Col2a1-cre)1Bhr/0
involves: 129S7/SvEvBrd * C57BL/6 * SJL 		chondrodystrophy J:79879
decreased body length J:79879
distended abdomen J:79879
lethality throughout fetal growth and development, incomplete penetrance J:79879
short limbs J:79879
short snout J:79879
short tail J:79879
Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?
involves: 129S7/SvEvBrd * C57BL/6 * CBA 		abnormal male meiosis J:89368
abnormal seminiferous tubule morphology J:89368
abnormal testis development J:89368
Sox9tm2Crm/Sox9tm2Crm
Tg(Prrx1-cre)1Cjt/0
involves: 129S7/SvEvBrd * C57BL/6J * SJL/J 		abnormal angiogenesis J:147285
abnormal limb bud morphology J:79879
abnormal long bone morphology J:79879
absent cartilage J:79879
absent sternum J:79879
adactyly J:79879
perinatal lethality, incomplete penetrance J:79879
respiratory distress J:79879
Sox9tm2Crm/Sox9tm2Crm
Tg(WT1-cre)1Asc/0
involves: 129S7/SvEvBrd * C57BL/6 * CBA 		abnormal coat/ hair morphology J:100131
abnormal hair follicle bulge morphology J:100131
abnormal hair follicle matrix region morphology J:100131
abnormal hair follicle morphology J:100131
abnormal hair follicle outer root sheath morphology J:100131
abnormal hair shaft morphology J:100131
alopecia J:100131
decreased hair follicle number J:100131
hair follicle degeneration J:100131
increased hair follicle apoptosis J:100131
thick epidermis J:100131
Sox9tm2Crm/Sox9tm2Crm
Tg(Zp3-cre)93Knw/?
involves: 129S7/SvEvBrd * C57BL/6J 		abnormal dorsal root ganglion morphology J:105025
abnormal trunk neural crest cell morphology J:105025
increased trunk neural crest cell apoptosis J:105025
Sox9tm2Gsr/Sox9tm2Gsr
involves: 129P2/OlaHsd * CD-1 		pancreatic islet hyperplasia J:141017
Sox9tm3.1Tlu/Sox9+
Tg(Col2a1-cre)1Bhr/0
either: (involves: 129S4/SvJae * C57BL/6 * SJL) or (involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL) 		decreased body height J:207801
hunched posture J:207801
Sox9tm3.1Tlu/Sox9tm3.1Tlu
Tg(Col2a1-cre)1Bhr/0
either: (involves: 129S4/SvJae * C57BL/6 * SJL) or (involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL) 		abnormal cartilage development J:207801
abnormal forelimb stylopod morphology J:207801
abnormal forelimb zeugopod morphology J:207801
premature bone ossification J:207801
scapular bone hypoplasia J:207801
Sox9tm4.1Tlu/Sox9+
Tg(Col2a1-cre)1Bhr/0
involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL 		abnormal vertebrae development J:176950
decreased body size J:176950
hunched posture J:176950
premature endochondral bone ossification J:176950
normal skeleton phenotype J:176950
Sox9tm4.1Tlu/Sox9tm4.1Tlu
involves: 129S4/SvJae * 129S4/SvJaeSor * CD-1 		no abnormal phenotype detected J:176950
Sox9tm4.1Tlu/Sox9tm4.1Tlu
Tg(Col2a1-cre)1Bhr/0
involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL 		abnormal forelimb stylopod morphology J:176950
abnormal forelimb zeugopod morphology J:176950
abnormal vertebrae development J:176950
abnormal vertebral body morphology J:176950
premature endochondral bone ossification J:176950
scapular bone hypoplasia J:176950
short humerus J:176950
short radius J:176950
short ulna J:176950
Sox9tm4Tlu/Sox9+
involves: 129S4/SvJae * C57BL/6J 		preweaning lethality, complete penetrance J:176950
Sox9tm4Tlu/Sox9+
involves: 129S4/SvJae * CD-1 		normal mortality/aging J:176950
Tg(CAG-mRFP1,-SOX9,-EGFP)1Haak/0
Tg(Col2a1-cre)1Bhr/0
involves: C57BL/6 * SJL 		abnormal chondrocyte physiology J:176952
abnormal endochondral bone ossification J:176952
abnormal forelimb morphology J:176952
Tg(Prrx1-Sox9,-lacZ)1Haak/?
involves: C57BL/6 * DBA/2 		normal cardiovascular system phenotype J:147285
Tg(Prrx1-Sox9,-lacZ)1Haak/0
involves: C57BL/6 * DBA/2 		polydactyly J:121946
Tg(Prrx1-Sox9,-lacZ)1Haak/Tg(Prrx1-Sox9,-lacZ)1Haak
involves: C57BL/6 * DBA/2 		abnormal cartilage development J:121946
abnormal digit morphology J:121946
abnormal forelimb morphology J:121946
abnormal limb bud morphology J:121946
abnormal limb morphology J:121946
brachydactyly J:121946
delayed endochondral bone ossification J:121946
polydactyly J:121946
short limbs J:121946
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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory