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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sox9tm2Crm
targeted mutation 2, Benoit de Crombrugghe
MGI:2429649
Summary 12 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Sox9tm2Crm/Sox9tm2Crm
Tg(WT1-cre)1Asc/0
involves: 129S/SvEv * C57BL/6 * CBA MGI:3589670
cn2
Sox9tm2Crm/Sox9tm2Crm
Tg(Wnt1-cre)11Rth/0
involves: 129S/SvEv * C57BL/6 * CBA MGI:3718120
cn3
Sox9tm2Crm/Sox9+
Tg(Wnt1-cre)11Rth/0
involves: 129S/SvEv * C57BL/6 * CBA MGI:3718125
cn4
Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?
involves: 129S/SvEv * C57BL/6 * CBA MGI:3719089
cn5
Sox9tm2Crm/Sox9+
Tg(Nr5a1-cre)5Asc/?
involves: 129S/SvEv * C57BL/6 * CBA MGI:3719090
cn6
Sox9tm2Crm/Sox9+
Tg(Col2a1-cre)1Bhr/0
involves: 129S/SvEv * C57BL/6 * SJL MGI:2451169
cn7
Sox9tm2Crm/Sox9tm2Crm
Tg(Col2a1-cre)1Bhr/0
involves: 129S/SvEv * C57BL/6 * SJL MGI:2451170
cn8
Sox9tm2Crm/Sox9+
Tg(Prrx1-cre)1Cjt/0
involves: 129S/SvEv * C57BL/6J * SJL/J MGI:2451172
cn9
Sox9tm2Crm/Sox9tm2Crm
Tg(Prrx1-cre)1Cjt/0
involves: 129S/SvEv * C57BL/6J * SJL/J MGI:2451173
cn10
Sox8tm1Weg/Sox8tm1Weg
Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA MGI:3719091
cn11
Sox8tm1Weg/Sox8+
Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA MGI:3719092
cn12
Sox9tm2Crm/Sox9tm2Crm
Tg(Zp3-cre)93Knw/?
involves: C57BL/6J * 129S/SvEv MGI:3719095


Genotype
MGI:3589670
cn1
Allelic
Composition
Sox9tm2Crm/Sox9tm2Crm
Tg(WT1-cre)1Asc/0
Genetic
Background
involves: 129S/SvEv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(WT1-cre)1Asc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• increase of apoptosis in the precortex of the hair bulb
• different types of hair are impossible to distinguish
• appear hairless in the caudal part of the body, however further observation shows the presence of small, atrophic hair
• hair shaft is fragile as hair broke off easily
• between P6 and P14, show a marked change in follicular epithelium
• by P8, show an increased cellularity in the dermis
• reduction in cell proliferation in the matrix region
• by P8, show a decreased number of bulb matrix cells
• increase of apoptosis in the lower part of the outer root sheath
• bulge (the hair stem cell compartment) of the outer root sheath is absent
• hair follicles remain after the first hair cycle, however their number is reduced with a marked decrease at P60
• degeneration of the hair follicle after the first hair cycle

cellular
• increase of apoptosis in the precortex of the hair bulb




Genotype
MGI:3718120
cn2
Allelic
Composition
Sox9tm2Crm/Sox9tm2Crm
Tg(Wnt1-cre)11Rth/0
Genetic
Background
involves: 129S/SvEv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Wnt1-cre)11Rth mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal image of newborn Sox9tm2Crm/Sox9tm2Crm Tg(Wnt1-cre)11Rth/0 mice

mortality/aging
• die in the immediate postnatal period from respiratory distress

respiratory system
• absent thyroid cartilage

craniofacial
• the body of the hyoid is missing
• the lesser horns are missing
• all elements derived from the second and third branchial arches are missing
• large cleft secondary palate

skeleton
• the body of the hyoid is missing
• the lesser horns are missing
• absent thyroid cartilage
• no discernible chondrogenic mesenchyme condensations are seen at E13.5
• all cartilages and endochondral bones in the prechordal region are missing at E18.5
• endochondrial bone formation derived from cranial neural crest cells is missing, however cranial neural crest cells appear to migrate normally to their target locations

digestive/alimentary system
• large cleft secondary palate

hearing/vestibular/ear

growth/size/body
• large cleft secondary palate




Genotype
MGI:3718125
cn3
Allelic
Composition
Sox9tm2Crm/Sox9+
Tg(Wnt1-cre)11Rth/0
Genetic
Background
involves: 129S/SvEv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Wnt1-cre)11Rth mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• mildly hypoplastic craniofacial skeleton
• small cleft secondary palate

digestive/alimentary system
• small cleft secondary palate

growth/size/body
• small cleft secondary palate




Genotype
MGI:3719089
cn4
Allelic
Composition
Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?
Genetic
Background
involves: 129S/SvEv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Nr5a1-cre)5Asc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• gonads have fewer seminiferous cords and their outline is irregular
• at E13.5, male testis development is abnormal in a proportion of mice
• however, testes descend normally
• at E18.5, mice have a significant number of meiotic gonocytes (prophase) located in the seminiferous tubules next to quiescent gonocytes whereas gonocyte meiosis is inhibited in wild-type mice

endocrine/exocrine glands
• gonads have fewer seminiferous cords and their outline is irregular
• at E13.5, male testis development is abnormal in a proportion of mice
• however, testes descend normally




Genotype
MGI:3719090
cn5
Allelic
Composition
Sox9tm2Crm/Sox9+
Tg(Nr5a1-cre)5Asc/?
Genetic
Background
involves: 129S/SvEv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Nr5a1-cre)5Asc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• a small proportion of mice die soon after birth

growth/size/body
• a small proportion of mice have campomelic dysplasia (a form of short-limbed dwarfism)




Genotype
MGI:2451169
cn6
Allelic
Composition
Sox9tm2Crm/Sox9+
Tg(Col2a1-cre)1Bhr/0
Genetic
Background
involves: 129S/SvEv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 95% of animals die 10 days after birth; only a few survive and are able to mate

growth/size/body

skeleton
• compression of cervical and thoracic verterbrae

Mouse Models of Human Disease
OMIM ID Ref(s)
Campomelic Dysplasia 114290 J:79879




Genotype
MGI:2451170
cn7
Allelic
Composition
Sox9tm2Crm/Sox9tm2Crm
Tg(Col2a1-cre)1Bhr/0
Genetic
Background
involves: 129S/SvEv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryos die around day E16.5; only a few are recovered after birth

craniofacial

growth/size/body

limbs/digits/tail

skeleton
• severe

Mouse Models of Human Disease
OMIM ID Ref(s)
Campomelic Dysplasia 114290 J:79879




Genotype
MGI:2451172
cn8
Allelic
Composition
Sox9tm2Crm/Sox9+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S/SvEv * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Prrx1-cre)1Cjt mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• bending of bone
• bending of bone
• bending of bone
• bending of bone
• hypoplasia of pelvic bones

limbs/digits/tail
• bending of bone
• bending of bone
• bending of bone
• bending of bone

Mouse Models of Human Disease
OMIM ID Ref(s)
Campomelic Dysplasia 114290 J:79879




Genotype
MGI:2451173
cn9
Allelic
Composition
Sox9tm2Crm/Sox9tm2Crm
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S/SvEv * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Prrx1-cre)1Cjt mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die immediately in postnatal period from respiratory distress

limbs/digits/tail
• limb bud development arrested at E13.5
• absence of digit development

respiratory system
• animals die from respiratory distress

skeleton
• absence of bones in forelimbs and hindlimbs
• absence of cartilage in forelimbs and hindlimbs

embryo
• limb bud development arrested at E13.5

cardiovascular system
• at E11.5 - E12.5, vascular patterning in the limbs is abnormal
• at E11.5 the axial artery is absent from the limbs
• at E12.5 metacarpal vascular centers are absent, instead limb vessels form a single wide center that spans the anterior-posterior axis of the limb
• at E12.5 avascular areas fail to develop

Mouse Models of Human Disease
OMIM ID Ref(s)
Campomelic Dysplasia 114290 J:79879




Genotype
MGI:3719091
cn10
Allelic
Composition
Sox8tm1Weg/Sox8tm1Weg
Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox8tm1Weg mutation (0 available); any Sox8 mutation (9 available)
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Nr5a1-cre)5Asc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• at E18.5, Leydig cells are absent
• at E18.5, Sertoli cells are absent
• by E18.5 testes have not descended caudally

reproductive system
• at E18.5, Leydig cells are absent
• at E18.5, Sertoli cells are absent
• by E18.5 testes have not descended caudally
• gonads develop very few or no sex chords
• XY males exhibit ovarian differentiation
• 1 in 3 male mice undergoes sex reversal




Genotype
MGI:3719092
cn11
Allelic
Composition
Sox8tm1Weg/Sox8+
Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox8tm1Weg mutation (0 available); any Sox8 mutation (9 available)
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Nr5a1-cre)5Asc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• at E18.5, Leydig cells are absent
• at E18.5, Sertoli cells are absent
• by E18.5 testes have not descended caudally
• gonads develop very few or no sex chords
• XY males exhibit ovarian differentiation
• 40% of mice undergo sex reversal

endocrine/exocrine glands
• at E18.5, Leydig cells are absent
• at E18.5, Sertoli cells are absent
• by E18.5 testes have not descended caudally




Genotype
MGI:3719095
cn12
Allelic
Composition
Sox9tm2Crm/Sox9tm2Crm
Tg(Zp3-cre)93Knw/?
Genetic
Background
involves: C57BL/6J * 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9tm2Crm mutation (1 available); any Sox9 mutation (14 available)
Tg(Zp3-cre)93Knw mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• trunk neural crest derivatives are reduced
• at E10.5, fewer neurons and glia are present in the dorsal root ganglia caudal to the forelimb level

embryo
• neural crest cells undergo more apoptosis than in wild-type mice prior to or shortly after commencing migration to the periphery
• at E10.5, apoptotic cells are increased in the dorsal region of the neural tube caudal to the forelimb level
• trunk neural crest derivatives are reduced

cellular
• neural crest cells undergo more apoptosis than in wild-type mice prior to or shortly after commencing migration to the periphery
• at E10.5, apoptotic cells are increased in the dorsal region of the neural tube caudal to the forelimb level





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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory