Phenotypes associated with this allele

• Allele Symbol: Sox9^tm2Crm
• Allele Name: targeted mutation 2, Benoit de Crombrugghe
• Allele ID: MGI:2429649
• Summary: 16 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Shh^tm1(EGFP/cre)Cjt/Shh^+ Sox9^tm2Crm/Sox9^tm2Crm	B6.Cg-Shh^tm1(EGFP/cre)Cjt Sox9^tm2Crm	MGI:6378814
cn2	Sox8^tm1Weg/Sox8^+ Sox9^tm2Crm/Sox9^tm2Crm Tg(Nr5a1-cre)5Asc/?	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA	MGI:3719092
cn3	Sox8^tm1Weg/Sox8^tm1Weg Sox9^tm2Crm/Sox9^tm2Crm Tg(Nr5a1-cre)5Asc/?	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA	MGI:3719091
cn4	Sox9^tm2Crm/Sox9^+ Rr80^em1Jwsk/Rr80^+ E2f1^Tg(Wnt1-cre)2Sor/E2f1^+	involves: 129S7/SvEvBrd * C3H * C57BL/6J * FVB/NJ	MGI:6720292
cn5	Sox9^tm2Crm/Sox9^tm2Crm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3718120
cn6	Sox9^tm2Crm/Sox9^tm2Crm Tg(WT1-cre)1Asc/0	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3589670
cn7	Sox9^tm2Crm/Sox9^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3718125
cn8	Sox9^tm2Crm/Sox9^tm2Crm Tg(Nr5a1-cre)5Asc/?	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3719089
cn9	Sox9^tm2Crm/Sox9^+ Tg(Nr5a1-cre)5Asc/?	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3719090
cn10	Sox9^tm2Crm/Sox9^tm2Crm Tg(Zp3-cre)93Knw/?	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3719095
cn11	Sox9^tm2Crm/Sox9^+ Tg(Prrx1-cre)1Cjt/0	involves: 129S7/SvEvBrd * C57BL/6J * SJL/J	MGI:2451172
cn12	Sox9^tm2Crm/Sox9^tm2Crm Tg(Prrx1-cre)1Cjt/0	involves: 129S7/SvEvBrd * C57BL/6J * SJL/J	MGI:2451173
cn13	Sox9^tm2Crm/Sox9^tm2Crm Tg(Col2a1-cre)1Bhr/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:2451170
cn14	Sox9^tm2Crm/Sox9^+ Tg(Col2a1-cre)1Bhr/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:2451169
cn15	Sox10^tm1Ngan/Sox10^+ Sox9^tm2Crm/Sox9^+ Tg(Rr141-cre)1Ksec/0	involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * CBA	MGI:7451336
cn16	Sox9^tm2Crm/Sox9^+ Tg(Rr141-cre)1Ksec/0	involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * CBA	MGI:7451331

Genotype
MGI:6378814

cn1

• Allelic Composition: Shh^{tm1(EGFP/cre)Cjt}/Shh⁺; Sox9^tm2Crm/Sox9^tm2Crm
• Genetic Background: B6.Cg-Shh^{tm1(EGFP/cre)Cjt} Sox9^tm2Crm

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

embryo

abnormal primitive urogenital sinus morphology ( J:281428 )

• prostatic bud initiation from the urogenital sinus epithelium is unaffected, but buds fail to elongate

Genotype
MGI:3719092

cn2

• Allelic Composition: Sox8^tm1Weg/Sox8⁺; Sox9^tm2Crm/Sox9^tm2Crm; Tg(Nr5a1-cre)5Asc/?
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA

reproductive system

decreased Sertoli cell number ( J:89368 )

• at E18.5, Sertoli cells are absent

absent Leydig cells ( J:89368 )

• at E18.5, Leydig cells are absent

cryptorchism ( J:89368 )

• by E18.5 testes have not descended caudally

abnormal primary sex determination ( J:89368 )

• gonads develop very few or no sex chords

• XY males exhibit ovarian differentiation

sex reversal ( J:89368 )

• 40% of mice undergo sex reversal

endocrine/exocrine glands

decreased Sertoli cell number ( J:89368 )

• at E18.5, Sertoli cells are absent

absent Leydig cells ( J:89368 )

• at E18.5, Leydig cells are absent

cryptorchism ( J:89368 )

• by E18.5 testes have not descended caudally

Genotype
MGI:3719091

cn3

• Allelic Composition: Sox8^tm1Weg/Sox8^tm1Weg; Sox9^tm2Crm/Sox9^tm2Crm; Tg(Nr5a1-cre)5Asc/?
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA

endocrine/exocrine glands

decreased Sertoli cell number ( J:89368 )

• at E18.5, Sertoli cells are absent

absent Leydig cells ( J:89368 )

• at E18.5, Leydig cells are absent

cryptorchism ( J:89368 )

• by E18.5 testes have not descended caudally

reproductive system

decreased Sertoli cell number ( J:89368 )

• at E18.5, Sertoli cells are absent

absent Leydig cells ( J:89368 )

• at E18.5, Leydig cells are absent

cryptorchism ( J:89368 )

• by E18.5 testes have not descended caudally

abnormal primary sex determination ( J:89368 )

• gonads develop very few or no sex chords

• XY males exhibit ovarian differentiation

sex reversal ( J:89368 )

• 1 in 3 male mice undergoes sex reversal

Genotype
MGI:6720292

cn4

• Allelic Composition: Sox9^tm2Crm/Sox9⁺; Rr80^em1Jwsk/Rr80⁺; E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C3H * C57BL/6J * FVB/NJ

craniofacial

abnormal mandible morphology ( J:306395 )

• exacerbated compared with wild-type enhancer cluster 1.45

mandibular condyloid process hypoplasia ( J:306395 )

short mandible ( J:306395 )

growth/size/body

postnatal growth retardation ( J:306395 )

skeleton

abnormal mandible morphology ( J:306395 )

• exacerbated compared with wild-type enhancer cluster 1.45

mandibular condyloid process hypoplasia ( J:306395 )

short mandible ( J:306395 )

Genotype
MGI:3718120

cn5

• Allelic Composition: Sox9^tm2Crm/Sox9^tm2Crm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

Skeletal image of newborn Sox9^tm2Crm/Sox9^tm2Crm H2az2^{Tg(Wnt1-cre)11Rth}/0 mice

mortality/aging

neonatal lethality, complete penetrance ( J:84790 )

• die in the immediate postnatal period from respiratory distress

respiratory system

absent nasal capsule ( J:84790 )

absent thyroid cartilage ( J:84790 )

• absent thyroid cartilage

respiratory distress ( J:84790 )

craniofacial

abnormal craniofacial bone morphology ( J:84790 )

abnormal cranium morphology ( J:84790 )

absent basisphenoid bone ( J:84790 )

absent styloid process ( J:84790 )

absent Meckel's cartilage ( J:84790 )

absent presphenoid bone ( J:84790 )

abnormal hyoid bone morphology ( J:84790 )

absent hyoid bone body ( J:84790 )

• the body of the hyoid is missing

absent hyoid bone lesser horns ( J:84790 )

• the lesser horns are missing

small mandible ( J:84790 )

short mandible ( J:84790 )

domed cranium ( J:84790 )

absent incus ( J:84790 )

absent malleus ( J:84790 )

absent stapes ( J:84790 )

abnormal craniofacial development ( J:84790 )

• all elements derived from the second and third branchial arches are missing

absent nasal capsule ( J:84790 )

cleft secondary palate ( J:84790 )

• large cleft secondary palate

short snout ( J:84790 )

skeleton

abnormal craniofacial bone morphology ( J:84790 )

abnormal cranium morphology ( J:84790 )

absent basisphenoid bone ( J:84790 )

absent styloid process ( J:84790 )

absent Meckel's cartilage ( J:84790 )

absent presphenoid bone ( J:84790 )

abnormal hyoid bone morphology ( J:84790 )

absent hyoid bone body ( J:84790 )

• the body of the hyoid is missing

absent hyoid bone lesser horns ( J:84790 )

• the lesser horns are missing

small mandible ( J:84790 )

short mandible ( J:84790 )

domed cranium ( J:84790 )

absent incus ( J:84790 )

absent malleus ( J:84790 )

absent stapes ( J:84790 )

absent nasal capsule ( J:84790 )

absent thyroid cartilage ( J:84790 )

• absent thyroid cartilage

abnormal skeleton development ( J:84790 )

• no discernible chondrogenic mesenchyme condensations are seen at E13.5

abnormal bone ossification ( J:84790 )

• 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

cleft secondary palate ( J:84790 )

• large cleft secondary palate

hearing/vestibular/ear

absent incus ( J:84790 )

absent malleus ( J:84790 )

absent stapes ( J:84790 )

growth/size/body

absent nasal capsule ( J:84790 )

cleft secondary palate ( J:84790 )

• large cleft secondary palate

short snout ( J:84790 )

Genotype
MGI:3589670

cn6

• Allelic Composition: Sox9^tm2Crm/Sox9^tm2Crm; Tg(WT1-cre)1Asc/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

integument

increased hair follicle apoptosis ( J:100131 )

• increase of apoptosis in the precortex of the hair bulb

abnormal coat/ hair morphology ( J:100131 )

• different types of hair are impossible to distinguish

alopecia ( J:100131 )

• appear hairless in the caudal part of the body, however further observation shows the presence of small, atrophic hair

abnormal hair shaft morphology ( J:100131 )

• hair shaft is fragile as hair broke off easily

abnormal hair follicle morphology ( J:100131 )

• 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

abnormal hair follicle matrix region morphology ( J:100131 )

• by P8, show a decreased number of bulb matrix cells

abnormal hair follicle outer root sheath morphology ( J:100131 )

• increase of apoptosis in the lower part of the outer root sheath

abnormal hair follicle bulge morphology ( J:100131 )

• bulge (the hair stem cell compartment) of the outer root sheath is absent

decreased hair follicle number ( J:100131 )

• hair follicles remain after the first hair cycle, however their number is reduced with a marked decrease at P60

hair follicle degeneration ( J:100131 )

• degeneration of the hair follicle after the first hair cycle

thick epidermis ( J:100131 )

cellular

increased hair follicle apoptosis ( J:100131 )

• increase of apoptosis in the precortex of the hair bulb

Genotype
MGI:3718125

cn7

• Allelic Composition: Sox9^tm2Crm/Sox9⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

craniofacial

abnormal craniofacial morphology ( J:84790 )

• mildly hypoplastic craniofacial skeleton

cleft secondary palate ( J:84790 )

• small cleft secondary palate

digestive/alimentary system

cleft secondary palate ( J:84790 )

• small cleft secondary palate

growth/size/body

cleft secondary palate ( J:84790 )

• small cleft secondary palate

Genotype
MGI:3719089

cn8

• Allelic Composition: Sox9^tm2Crm/Sox9^tm2Crm; Tg(Nr5a1-cre)5Asc/?
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

reproductive system

abnormal male meiosis ( J:89368 )

♂ • 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

abnormal seminiferous tubule morphology ( J:89368 )

♂ • gonads have fewer seminiferous cords and their outline is irregular

abnormal testis development ( J:89368 )

♂ • at E13.5, male testis development is abnormal in a proportion of mice

♂ • however, testes descend normally

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:89368 )

♂ • gonads have fewer seminiferous cords and their outline is irregular

abnormal testis development ( J:89368 )

♂ • at E13.5, male testis development is abnormal in a proportion of mice

♂ • however, testes descend normally

cellular

abnormal male meiosis ( J:89368 )

♂ • 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

Genotype
MGI:3719090

cn9

• Allelic Composition: Sox9^tm2Crm/Sox9⁺; Tg(Nr5a1-cre)5Asc/?
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

mortality/aging

neonatal lethality, incomplete penetrance ( J:89368 )

• a small proportion of mice die soon after birth

growth/size/body

disproportionate dwarf ( J:89368 )

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

Genotype
MGI:3719095

cn10

• Allelic Composition: Sox9^tm2Crm/Sox9^tm2Crm; Tg(Zp3-cre)93Knw/?
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

nervous system

abnormal trunk neural crest cell morphology ( J:105025 )

• trunk neural crest derivatives are reduced

abnormal dorsal root ganglion morphology ( J:105025 )

• at E10.5, fewer neurons and glia are present in the dorsal root ganglia caudal to the forelimb level

embryo

increased trunk neural crest cell apoptosis ( J:105025 )

• 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

abnormal trunk neural crest cell morphology ( J:105025 )

• trunk neural crest derivatives are reduced

cellular

increased trunk neural crest cell apoptosis ( J:105025 )

• 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

Genotype
MGI:2451172

cn11

• Allelic Composition: Sox9^tm2Crm/Sox9⁺; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * SJL/J

skeleton

bowed radius ( J:79879 )

• bending of bone

bowed ulna ( J:79879 )

• bending of bone

bowed fibula ( J:79879 )

• bending of bone

bowed tibia ( J:79879 )

• bending of bone

scapular bone hypoplasia ( J:79879 )

abnormal pelvic girdle bone morphology ( J:79879 )

• hypoplasia of pelvic bones

limbs/digits/tail

bowed radius ( J:79879 )

• bending of bone

bowed ulna ( J:79879 )

• bending of bone

bowed fibula ( J:79879 )

• bending of bone

bowed tibia ( J:79879 )

• bending of bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:79879

Genotype
MGI:2451173

cn12

• Allelic Composition: Sox9^tm2Crm/Sox9^tm2Crm; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * SJL/J

mortality/aging

perinatal lethality, incomplete penetrance ( J:79879 )

• most die immediately in postnatal period from respiratory distress

limbs/digits/tail

abnormal limb bud morphology ( J:79879 )

• limb bud development arrested at E13.5

adactyly ( J:79879 )

• absence of digit development

respiratory system

respiratory distress ( J:79879 )

• animals die from respiratory distress

skeleton

abnormal long bone morphology ( J:79879 )

• absence of bones in forelimbs and hindlimbs

absent sternum ( J:79879 )

absent cartilage ( J:79879 )

• absence of cartilage in forelimbs and hindlimbs

embryo

abnormal limb bud morphology ( J:79879 )

• limb bud development arrested at E13.5

cardiovascular system

abnormal angiogenesis ( J:147285 )

• 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		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:79879

Genotype
MGI:2451170

cn13

• Allelic Composition: Sox9^tm2Crm/Sox9^tm2Crm; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:79879 )

• embryos die around day E16.5; only a few are recovered after birth

craniofacial

short snout ( J:79879 )

growth/size/body

short snout ( J:79879 )

decreased body length ( J:79879 )

distended abdomen ( J:79879 )

limbs/digits/tail

short limbs ( J:79879 )

short tail ( J:79879 )

skeleton

chondrodystrophy ( J:79879 )

• severe

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:79879

Genotype
MGI:2451169

cn14

• Allelic Composition: Sox9^tm2Crm/Sox9⁺; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:79879 )

• 95% of animals die 10 days after birth; only a few survive and are able to mate

growth/size/body

disproportionate dwarf ( J:79879 )

skeleton

kyphosis ( J:79879 )

abnormal vertebrae morphology ( J:79879 )

• compression of cervical and thoracic verterbrae

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:79879

Genotype
MGI:7451336

cn15

• Allelic Composition: Sox10^tm1Ngan/Sox10⁺; Sox9^tm2Crm/Sox9⁺; Tg(Rr141-cre)1Ksec/0
• Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * CBA

hearing/vestibular/ear

dilated cochlea ( J:332093 )

• larger cross-section of basal cochlear lumen in E15.5 embryos

Genotype
MGI:7451331

cn16

• Allelic Composition: Sox9^tm2Crm/Sox9⁺; Tg(Rr141-cre)1Ksec/0
• Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * CBA

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:332093 )

N • normal cross-section of basal cochlear lumen in E15.5 embryos