Mouse Genome Informatics
cn1
    Sox9tm2Crm/Sox9tm2Crm
Tg(WT1-cre)1Asc/0

involves: 129S/SvEv * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
cn2
    Sox9tm2Crm/Sox9tm2Crm
Tg(Wnt1-cre)11Rth/0

involves: 129S/SvEv * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

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

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
• 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


Mouse Genome Informatics
cn3
    Sox9tm2Crm/Sox9+
Tg(Wnt1-cre)11Rth/0

involves: 129S/SvEv * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• mildly hypoplastic craniofacial skeleton
• small cleft secondary palate

digestive/alimentary system
• small cleft secondary palate


Mouse Genome Informatics
cn4
    Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?

involves: 129S/SvEv * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• gonads have fewer seminiferous cords and their outline is irregular (J:89368)
• at E13.5, male testis development is abnormal in a proportion of mice (J:89368)
• however, testes descend normally (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 (J:89368)

endocrine/exocrine glands
• gonads have fewer seminiferous cords and their outline is irregular (J:89368)
• at E13.5, male testis development is abnormal in a proportion of mice (J:89368)
• however, testes descend normally (J:89368)


Mouse Genome Informatics
cn5
    Sox9tm2Crm/Sox9+
Tg(Nr5a1-cre)5Asc/?

involves: 129S/SvEv * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• a small proportion of mice die soon after birth

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


Mouse Genome Informatics
cn6
    Sox9tm2Crm/Sox9+
Tg(Col2a1-cre)1Bhr/0

involves: 129S/SvEv * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 95% of animals die 10 days after birth; only a few survive and are able to mate

growth/size

skeleton
• compression of cervical and thoracic verterbrae

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


Mouse Genome Informatics
cn7
    Sox9tm2Crm/Sox9tm2Crm
Tg(Col2a1-cre)1Bhr/0

involves: 129S/SvEv * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryos die around day E16.5; only a few are recovered after birth

craniofacial

growth/size

limbs/digits/tail

skeleton
• severe

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


Mouse Genome Informatics
cn8
    Sox9tm2Crm/Sox9+
Tg(Prrx1-cre)1Cjt/0

involves: 129S/SvEv * C57BL/6J * SJL/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Campomelic Dysplasia 114290 J:79879


Mouse Genome Informatics
cn9
    Sox9tm2Crm/Sox9tm2Crm
Tg(Prrx1-cre)1Cjt/0

involves: 129S/SvEv * C57BL/6J * SJL/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

embryogenesis
• 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 IDRef(s)
Campomelic Dysplasia 114290 J:79879


Mouse Genome Informatics
cn10
    Sox8tm1Weg/Sox8tm1Weg
Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?

involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
cn11
    Sox8tm1Weg/Sox8+
Sox9tm2Crm/Sox9tm2Crm
Tg(Nr5a1-cre)5Asc/?

involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
cn12
    Sox9tm2Crm/Sox9tm2Crm
Tg(Zp3-cre)93Knw/?

involves: C57BL/6J * 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• trunk neural crest derivatives are reduced
• 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
• at E10.5, fewer neurons and glia are present in the dorsal root ganglia caudal to the forelimb level

embryogenesis
• trunk neural crest derivatives are reduced
• 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