Phenotypes associated with this allele

• Allele Symbol: Smo^tm1Amc
• Allele Name: targeted mutation 1, Andrew P McMahon
• Allele ID: MGI:2176255
• Summary: 21 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smo^tm1Amc/Smo^tm1Amc	involves: 129X1/SvJ * C57BL/6	MGI:3818920
hm2	Smo^tm1Amc/Smo^tm1Amc	involves: 129X1/SvJ * CD-1	MGI:4357966
cn3	Smo^tm1Amc/Smo^tm2Amc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL * Swiss Webster	MGI:3665560
cn4	Smo^tm1Amc/Smo^tm2Amc Isl1^tm1(cre)Sev/Isl1^+	involves: 129S/Sv * 129X1/SvJ	MGI:3689403
cn5	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)10Amc/0	involves: 129X1/SvJ	MGI:3584111
cn6	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)3Amc/0	involves: 129X1/SvJ	MGI:3584114
cn7	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)15Amc/0	involves: 129X1/SvJ	MGI:3584113
cn8	Smo^tm1Amc/Smo^tm2Amc Tg(Fgf15-cre)1Hisa/0	involves: 129X1/SvJ	MGI:6434366
cn9	Smo^tm1Amc/Smo^tm2Amc Tg(KRT14-cre)1Amc/0	involves: 129X1/SvJ * C57BL/6 * CBA	MGI:2651648
cn10	Smo^tm1Amc/Smo^tm2Amc Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: 129X1/SvJ * CD-1	MGI:3689417
cn11	Smo^tm1Amc/Smo^tm1Amc Tg(Pdx1-cre)6Tuv/0	involves: 129X1/SvJ * FVB/N	MGI:4356154
cn12	Smo^tm1Amc/Smo^tm2Amc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:3716198
cx13	Tctn1^Gt(KST296)Byg/Tctn1^Gt(KST296)Byg Smo^tm1Amc/Smo^tm1Amc	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6	MGI:3717156
cx14	Bmp4^tm2Blh/Bmp4^+ Smo^tm1Amc/Smo^tm1Amc	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6	MGI:3818885
cx15	Kif7^tm1.2Hui/Kif7^tm1.2Hui Smo^tm1Amc/Smo^tm1Amc	involves: 129S6/SvEvTac * 129X1/SvJ * CD-1	MGI:4357965
cx16	Cdk20^tm1.1Jegg/Cdk20^tm1.1Jegg Smo^tm1Amc/Smo^tm1Amc	involves: 129S7/SvEvBrd * 129X1/SvJ * FVB/N	MGI:6113533
cx17	Gpr161^tm1Lex/Gpr161^tm1Lex Smo^tm1Amc/Smo^tm1Amc	involves: 129S/SvEv * 129X1/SvJ * C57BL/6N	MGI:5475128
cx18	Ift122^sopb/Ift122^sopb Smo^tm1Amc/Smo^tm1Amc	involves: 129X1/SvJ * C3Heb/FeJ * C57BL/6J	MGI:4888269
cx19	Smo^tm1Amc/Smo^tm1Amc Tulp3^hhkr/Tulp3^hhkr	involves: 129X1/SvJ * C3H/HeH * C57BL/6	MGI:3842142
cx20	Ankmy2^tm1b(EUCOMM)Hmgu/Ankmy2^tm1b(EUCOMM)Hmgu Smo^tm1Amc/Smo^tm1Amc	involves: 129X1/SvJ * C57BL/6 * C57BL/6N	MGI:6489570
cx21	Smo^tm1Amc/Smo^tm1Amc Wdpcp^cys40/Wdpcp^cys40	involves: 129X1/SvJ * C57BL/6J	MGI:5558104

Genotype
MGI:3818920

hm1

• Allelic Composition: Smo^tm1Amc/Smo^tm1Amc
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

embryo

abnormal vitelline vasculature morphology ( J:128367 )

• yolk sac vasculature is rudimentary similar to Shh/Ihh double knock-outs; vascular plexus does not form

• yolk sacs from E9.5 embryos develop a well-organized plexus of endothelial tubes when Bmp4 is added to culture

abnormal embryo development ( J:128367 )

• embryos are identical to Shh/Ihh double mutant embryos

abnormal embryo turning ( J:128367 )

• at E8.5 embryos are in a primitive, unturned position

cardiovascular system

abnormal vitelline vasculature morphology ( J:128367 )

• yolk sac vasculature is rudimentary similar to Shh/Ihh double knock-outs; vascular plexus does not form

• yolk sacs from E9.5 embryos develop a well-organized plexus of endothelial tubes when Bmp4 is added to culture

Genotype
MGI:4357966

hm2

• Allelic Composition: Smo^tm1Amc/Smo^tm1Amc
• Genetic Background: involves: 129X1/SvJ * CD-1

nervous system

absent neuronal precursor cells ( J:152259 )

• floor plate cells (Shh+ Foxa2+), V3 progenitors (Nkx2-2+), and motor neuron progenitors (Olig2+) are absent in the neural tube

embryo

embryonic growth retardation ( J:152259 )

• at E9.0

growth/size/body

embryonic growth retardation ( J:152259 )

• at E9.0

Genotype
MGI:3665560

cn3

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL * Swiss Webster

mortality/aging

postnatal lethality, incomplete penetrance ( J:108507 )

• about 10% of mice survive to 3 weeks of age

nervous system

decreased brain size ( J:108507 )

• overall size of mutant brains is smaller than wild-type

abnormal cerebellum morphology ( J:108507 )

• four principal fissures are very shallow

abnormal cerebellar foliation ( J:108507 )

• in lateral regions, foliation is limited to slight indentations only in central and posterior regions

small cerebellum ( J:108507 )

• at E16.5, cerebella appear grossly normal, but reduced in size

• at P21, cerebella shows more pronounced reduction in size vs wild-type

• AP axis is more dramatically reduced than ML axis

Genotype
MGI:3689403

cn4

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Isl1^tm1(cre)Sev/Isl1⁺
• Genetic Background: involves: 129S/Sv * 129X1/SvJ

mortality/aging

perinatal lethality ( J:110602 )

cardiovascular system

abnormal sixth pharyngeal arch artery morphology ( J:110602 )

• E10 embryos show an absence of the left 6th aortic arch although the right 6th arch is normal

abnormal aortic arch morphology ( J:110602 )

right aortic arch ( J:110602 )

abnormal cardiac outflow tract development ( J:110602 )

• outflow tracts are shortened by about 17%, 18% and 22% at E10.5, E11.5, and E12.5, respectively

• exhibit increased apoptosis in outflow tract myocardium at E10

persistent truncus arteriosus ( J:110602 )

• seen in 19 of 20 mutants at E18.5

transposition of great arteries ( J:110602 )

• seen in 1 of 20 mutants at E18.5

atrial septal defect ( J:110602 )

• E12.5 and E18.5 hearts show atrial septal defects

ventricular septal defect ( J:110602 )

• ventricular septal defects

embryo

abnormal sixth pharyngeal arch artery morphology ( J:110602 )

• E10 embryos show an absence of the left 6th aortic arch although the right 6th arch is normal

abnormal cardiac neural crest cell migration ( J:110602 )

• marker analysis indicates that cardiac neural crest cells are present in the pharyngeal arches and the outflow tract but do not penetrate the outflow tract to the same extent as in wild-type

craniofacial

abnormal sixth pharyngeal arch artery morphology ( J:110602 )

• E10 embryos show an absence of the left 6th aortic arch although the right 6th arch is normal

cellular

abnormal cardiac neural crest cell migration ( J:110602 )

• marker analysis indicates that cardiac neural crest cells are present in the pharyngeal arches and the outflow tract but do not penetrate the outflow tract to the same extent as in wild-type

Genotype
MGI:3584111

cn5

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(Col2a1-cre)10Amc/0
• Genetic Background: involves: 129X1/SvJ

cellular

decreased chondrocyte proliferation ( J:73071 )

• decrease in chondrocyte proliferation at E14.5, however chondrocyte differentiation proceeds normally

mortality/aging

postnatal lethality, complete penetrance ( J:73071 )

• small number of mutant pups survive for up to 9 days postpartum

skeleton

decreased chondrocyte proliferation ( J:73071 )

• decrease in chondrocyte proliferation at E14.5, however chondrocyte differentiation proceeds normally

decreased length of long bones ( J:73071 )

• shorter long bones with no growth of long bones after birth and defects more severe than in mutants carrying Tg(Col2a1-cre)15Amc or Tg(Col2a1-cre)3Amc

short humerus ( J:73071 )

short ulna ( J:73071 )

• short ulna

short fibula ( J:73071 )

short tibia ( J:73071 )

• almost no growth of tibia after birth

short scapula ( J:73071 )

• length of scapula is shorter

abnormal skeleton development ( J:73071 )

• skeletal growth retardation

limbs/digits/tail

abnormal digit morphology ( J:73071 )

• failure of digit segmentation and ossification

short humerus ( J:73071 )

short ulna ( J:73071 )

• short ulna

short fibula ( J:73071 )

short tibia ( J:73071 )

• almost no growth of tibia after birth

short limbs ( J:73071 )

• 40-50% reduction in the length of the stylopod and the zeugopod at birth

Genotype
MGI:3584114

cn6

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(Col2a1-cre)3Amc/0
• Genetic Background: involves: 129X1/SvJ

skeleton

decreased length of long bones ( J:73071 )

• shorter long bones, more severe than in mutants carrying Tg(Col2a1-cre)15Amc but less severe than in mutants carrying Tg(Col2a1-cre)10Amc

Genotype
MGI:3584113

cn7

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(Col2a1-cre)15Amc/0
• Genetic Background: involves: 129X1/SvJ

skeleton

decreased length of long bones ( J:73071 )

• shorter long bones, however, less severe than in mutants carrying Tg(Col2a1-cre)10Amc or Tg(Col2a1-cre)3Amc

Genotype
MGI:6434366

cn8

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(Fgf15-cre)1Hisa/0
• Genetic Background: involves: 129X1/SvJ

vision/eye

abnormal lens development ( J:156737 )

• at 35-somite stage (E10.5), lens anlagen is hypotrophic; at 40-somite stage, lens anlagen is no longer observed

abnormal optic cup morphology ( J:156737 )

• at 32-somite stage (E10), ventral optic cup morphology is defective; at 30-somite stage, cell proliferation in ventral optic cup is significantly decreased at this stage compared to controls

• at 40-somite stage (E11), ventral optic cup is no longer observed and dorsal optic cup has degenerated

abnormal optic stalk morphology ( J:156737 )

• by 40-somite stage, stalk is shorter than in controls

abnormal optic vesicle formation ( J:156737 )

• ventral parts of vesicle are lost or do not grow appropriately at at 32-somite stage (E10), at 35-somite stage (E10.5), and at 40-somite stage (E11)

• at 24-somite stage, increased numbers of apoptotic cells are observed compared to controls

anophthalmia ( J:156737 )

• newborn animals have no eye tissue; phenotype shows complete penetrance

growth/size/body

decreased embryo size ( J:156737 )

• after the 26-somite stage (E9.75), entire body is smaller than controls

hearing/vestibular/ear

abnormal otic vesicle development ( J:156737 )

• otic vesicle appears almost normal, but cell proliferation is decreased

nervous system

forebrain hypoplasia ( J:156737 )

• at PO, animals have small forebrain

abnormal diencephalon morphology ( J:156737 )

• diencephalon is disproportionately hypotrophic

embryo

decreased embryo size ( J:156737 )

• after the 26-somite stage (E9.75), entire body is smaller than controls

Genotype
MGI:2651648

cn9

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:80081 )

• pups die within 1 day after birth

craniofacial

abnormal incisor morphology ( J:80081 )

• incisors are smaller in diameter and exhibit abnormal folding of the inner dental epithelium

• incisors show an absence of the papillary layer

abnormal molar morphology ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

• dental cord is virtually absent

• the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

• the outer dental epithelium forms a continuous layer without the gaps seen in controls

abnormal molar cusp morphology ( J:80081 )

• cusps of first molars are shallow, broad, underdeveloped and misshapen

fused molars ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

abnormal ameloblast morphology ( J:80081 )

• exhibit abnonormally short ameloblasts in the most advanced cusps of first molar region that are overlaid by a scarce, squamous stratum intermedium

• in incisors, the cuboidal ameloblasts are only 15% of the apical-basal height and contain centrally located round nuclei

• mitochondria, RER, and Golgi are sparse and evenly distributed in the cytoplasm of incisor ameloblasts and Tomes' processes and the terminal webs do not develop

• amelolasts exhibit premature withdrawal from the cell cylce

absent Tomes' process ( J:80081 )

• Tomes' processes do not develop

abnormal enamel organ morphology ( J:80081 )

• the epithelial enamel organ appears disorganized at the late bell stage in the principal cusps of the first molars

abnormal stellate reticulum morphology ( J:80081 )

• in molars, the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

abnormal inner dental epithelium morphology ( J:80081 )

• incisors exhibit abnormal folding of the inner dental epithelium

abnormal outer dental epithelium morphology ( J:80081 )

• in molars, the outer dental epithelium forms a continuous layer without the gaps observed in controls

absent enamel cord ( J:80081 )

• molars develop close to the oral surface, indicating virtual absence of a dental cord

growth/size/body

abnormal incisor morphology ( J:80081 )

• incisors are smaller in diameter and exhibit abnormal folding of the inner dental epithelium

• incisors show an absence of the papillary layer

abnormal molar morphology ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

• dental cord is virtually absent

• the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

• the outer dental epithelium forms a continuous layer without the gaps seen in controls

abnormal molar cusp morphology ( J:80081 )

• cusps of first molars are shallow, broad, underdeveloped and misshapen

fused molars ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

abnormal ameloblast morphology ( J:80081 )

• exhibit abnonormally short ameloblasts in the most advanced cusps of first molar region that are overlaid by a scarce, squamous stratum intermedium

• in incisors, the cuboidal ameloblasts are only 15% of the apical-basal height and contain centrally located round nuclei

• mitochondria, RER, and Golgi are sparse and evenly distributed in the cytoplasm of incisor ameloblasts and Tomes' processes and the terminal webs do not develop

• amelolasts exhibit premature withdrawal from the cell cylce

absent Tomes' process ( J:80081 )

• Tomes' processes do not develop

abnormal enamel organ morphology ( J:80081 )

• the epithelial enamel organ appears disorganized at the late bell stage in the principal cusps of the first molars

abnormal stellate reticulum morphology ( J:80081 )

• in molars, the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

abnormal inner dental epithelium morphology ( J:80081 )

• incisors exhibit abnormal folding of the inner dental epithelium

abnormal outer dental epithelium morphology ( J:80081 )

• in molars, the outer dental epithelium forms a continuous layer without the gaps observed in controls

absent enamel cord ( J:80081 )

• molars develop close to the oral surface, indicating virtual absence of a dental cord

skeleton

abnormal incisor morphology ( J:80081 )

• incisors are smaller in diameter and exhibit abnormal folding of the inner dental epithelium

• incisors show an absence of the papillary layer

abnormal molar morphology ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

• dental cord is virtually absent

• the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

• the outer dental epithelium forms a continuous layer without the gaps seen in controls

abnormal molar cusp morphology ( J:80081 )

• cusps of first molars are shallow, broad, underdeveloped and misshapen

fused molars ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

abnormal ameloblast morphology ( J:80081 )

• exhibit abnonormally short ameloblasts in the most advanced cusps of first molar region that are overlaid by a scarce, squamous stratum intermedium

• in incisors, the cuboidal ameloblasts are only 15% of the apical-basal height and contain centrally located round nuclei

• mitochondria, RER, and Golgi are sparse and evenly distributed in the cytoplasm of incisor ameloblasts and Tomes' processes and the terminal webs do not develop

• amelolasts exhibit premature withdrawal from the cell cylce

absent Tomes' process ( J:80081 )

• Tomes' processes do not develop

abnormal enamel organ morphology ( J:80081 )

• the epithelial enamel organ appears disorganized at the late bell stage in the principal cusps of the first molars

abnormal stellate reticulum morphology ( J:80081 )

• in molars, the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

abnormal inner dental epithelium morphology ( J:80081 )

• incisors exhibit abnormal folding of the inner dental epithelium

abnormal outer dental epithelium morphology ( J:80081 )

• in molars, the outer dental epithelium forms a continuous layer without the gaps observed in controls

absent enamel cord ( J:80081 )

• molars develop close to the oral surface, indicating virtual absence of a dental cord

Genotype
MGI:3689417

cn10

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
• Genetic Background: involves: 129X1/SvJ * CD-1

normal phenotype

no abnormal phenotype detected ( J:114494 )

• mutants show normal program of chondrocyte and osteoblast development

Genotype
MGI:4356154

cn11

• Allelic Composition: Smo^tm1Amc/Smo^tm1Amc; Tg(Pdx1-cre)6Tuv/0
• Genetic Background: involves: 129X1/SvJ * FVB/N

digestive/alimentary system

digestive/alimentary phenotype ( J:151981 )

N • ventral pancreas and gall bladder development is normal at E10.5

Genotype
MGI:3716198

cn12

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

craniofacial

abnormal cranium morphology ( J:89445 )

abnormal sphenoid bone morphology ( J:89445 )

abnormal basisphenoid bone morphology ( J:89445 )

• rostral half is missing

small alisphenoid bone ( J:89445 )

• reduced

absent orbitosphenoid bone ( J:89445 )

• missing

absent presphenoid bone ( J:89445 )

absent pterygoid process ( J:89445 )

abnormal temporal bone morphology ( J:89445 )

absent styloid process ( J:89445 )

small temporal bone squamous part ( J:89445 )

• reduced

abnormal ethmoid bone morphology ( J:89445 )

• mesethmoid bone is missing

abnormal tooth morphology ( J:89445 )

• teeth are malformed and arrested

absent lower incisors ( J:89445 )

abnormal mandible morphology ( J:89445 )

• the dentate is reduced in length but the lamina is thicker

• at E9.5, there is an increase in apoptotic cells along the midline

• at E10.5, apoptotic cells are observed along the midline and laterally

• at E10.5, mandibles are 9% shorter than the wild-type and only undergoes a 1.5-fold along the dorsal-ventral axis compared to a 4-fold expansion in wild-type

• at E11.5, cell proliferation is decreased

abnormal mandibular condyloid process morphology ( J:89445 )

• mice have an extra condylar process

abnormal maxilla morphology ( J:89445 )

• premaxilla and maxilla retain their lateral-most parts only

absent lacrimal bone ( J:89445 )

• absent or appears as a tiny fragment

nasal bone hypoplasia ( J:89445 )

• nasal bone is hypoplastic

absent palatine bone ( J:89445 )

absent vomer bone ( J:89445 )

small zygomatic bone ( J:89445 )

• reduced

absent middle ear ossicles ( J:89445 )

absent incus ( J:89445 )

absent gonial bone ( J:89445 )

absent malleus ( J:89445 )

absent stapes ( J:89445 )

abnormal craniofacial development ( J:89445 )

Meckel's cartilage hypoplasia ( J:89445 )

• hypoplastic and short

short Meckel's cartilage ( J:89445 )

absent Reichert cartilage ( J:89445 )

• the basi- cerato- and thyro hyoid elements are missing

absent tongue ( J:89445 )

nasal septum hypoplasia ( J:89445 )

• the nasal septum is incomplete

hearing/vestibular/ear

absent middle ear ossicles ( J:89445 )

absent incus ( J:89445 )

absent gonial bone ( J:89445 )

absent malleus ( J:89445 )

absent stapes ( J:89445 )

absent tympanic ring ( J:89445 )

digestive/alimentary system

absent tongue ( J:89445 )

respiratory system

nasal bone hypoplasia ( J:89445 )

• nasal bone is hypoplastic

nasal septum hypoplasia ( J:89445 )

• the nasal septum is incomplete

abnormal thyroid cartilage morphology ( J:89445 )

skeleton

abnormal cranium morphology ( J:89445 )

Meckel's cartilage hypoplasia ( J:89445 )

• hypoplastic and short

short Meckel's cartilage ( J:89445 )

abnormal sphenoid bone morphology ( J:89445 )

abnormal basisphenoid bone morphology ( J:89445 )

• rostral half is missing

small alisphenoid bone ( J:89445 )

• reduced

absent orbitosphenoid bone ( J:89445 )

• missing

absent presphenoid bone ( J:89445 )

absent pterygoid process ( J:89445 )

abnormal temporal bone morphology ( J:89445 )

absent styloid process ( J:89445 )

small temporal bone squamous part ( J:89445 )

• reduced

abnormal ethmoid bone morphology ( J:89445 )

• mesethmoid bone is missing

abnormal tooth morphology ( J:89445 )

• teeth are malformed and arrested

absent lower incisors ( J:89445 )

abnormal mandible morphology ( J:89445 )

• the dentate is reduced in length but the lamina is thicker

• at E9.5, there is an increase in apoptotic cells along the midline

• at E10.5, apoptotic cells are observed along the midline and laterally

• at E10.5, mandibles are 9% shorter than the wild-type and only undergoes a 1.5-fold along the dorsal-ventral axis compared to a 4-fold expansion in wild-type

• at E11.5, cell proliferation is decreased

abnormal mandibular condyloid process morphology ( J:89445 )

• mice have an extra condylar process

abnormal maxilla morphology ( J:89445 )

• premaxilla and maxilla retain their lateral-most parts only

absent lacrimal bone ( J:89445 )

• absent or appears as a tiny fragment

nasal bone hypoplasia ( J:89445 )

• nasal bone is hypoplastic

absent palatine bone ( J:89445 )

absent vomer bone ( J:89445 )

small zygomatic bone ( J:89445 )

• reduced

absent middle ear ossicles ( J:89445 )

absent incus ( J:89445 )

absent gonial bone ( J:89445 )

absent malleus ( J:89445 )

absent stapes ( J:89445 )

absent Reichert cartilage ( J:89445 )

• the basi- cerato- and thyro hyoid elements are missing

abnormal thyroid cartilage morphology ( J:89445 )

vision/eye

absent orbitosphenoid bone ( J:89445 )

• missing

growth/size/body

abnormal tooth morphology ( J:89445 )

• teeth are malformed and arrested

absent lower incisors ( J:89445 )

nasal bone hypoplasia ( J:89445 )

• nasal bone is hypoplastic

absent tongue ( J:89445 )

nasal septum hypoplasia ( J:89445 )

• the nasal septum is incomplete

Genotype
MGI:3717156

cx13

• Allelic Composition: Tctn1^{Gt(KST296)Byg}/Tctn1^{Gt(KST296)Byg}; Smo^tm1Amc/Smo^tm1Amc
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6

nervous system

increased forebrain size ( J:103820 )

• forebrains are larger than in Smo^tm1Amc

Genotype
MGI:3818885

cx14

• Allelic Composition: Bmp4^tm2Blh/Bmp4⁺; Smo^tm1Amc/Smo^tm1Amc
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6

embryo

absent vitelline blood vessels ( J:128367 )

• yolk sacs are avascular

cardiovascular system

absent vitelline blood vessels ( J:128367 )

• yolk sacs are avascular

Genotype
MGI:4357965

cx15

• Allelic Composition: Kif7^tm1.2Hui/Kif7^tm1.2Hui; Smo^tm1Amc/Smo^tm1Amc
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * CD-1

nervous system

abnormal neuron differentiation ( J:152259 )

• at E9.0, the prospective spinal cord contains Oligo2+ progenitors and scattered Nkx2-2+ progenitor cells compared to in wild-type mice

abnormal neural tube morphology ( J:152259 )

• expression of ventral neural tube patterning markers is altered compared to in wild-type mice

exencephaly ( J:152259 )

absent neuronal precursor cells ( J:152259 )

• at E9.0, Shh+ and Foxa2+ progenitor cells are absent

embryo

embryo phenotype ( J:152259 )

N • at E9.0, embryos are larger than Smo^tm1Amc homozygotes

abnormal neural tube morphology ( J:152259 )

• expression of ventral neural tube patterning markers is altered compared to in wild-type mice

cellular

abnormal neuron differentiation ( J:152259 )

• at E9.0, the prospective spinal cord contains Oligo2+ progenitors and scattered Nkx2-2+ progenitor cells compared to in wild-type mice

Genotype
MGI:6113533

cx16

• Allelic Composition: Cdk20^tm1.1Jegg/Cdk20^tm1.1Jegg; Smo^tm1Amc/Smo^tm1Amc
• Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ * FVB/N

nervous system

abnormal neuronal precursor cell number ( J:243907 )

• partial restoration of some Shh-dependent cell types in the neural tubes of double mutants compared to mice homozygous null for Smo alone

Genotype
MGI:5475128

cx17

• Allelic Composition: Gpr161^tm1Lex/Gpr161^tm1Lex; Smo^tm1Amc/Smo^tm1Amc
• Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6N

craniofacial

abnormal craniofacial morphology ( J:193395 )

• similar to Gpr161 single mutants

embryo

abnormal neural tube morphology ( J:193395 )

• neural tube is ventralized similar to Gpr161 single mutants

growth/size/body

growth/size/body region phenotype ( J:193395 )

N • unlike in Smo single mutants, growth retardation is not seen at E9.5

nervous system

abnormal neural tube morphology ( J:193395 )

• neural tube is ventralized similar to Gpr161 single mutants

Genotype
MGI:4888269

cx18

• Allelic Composition: Ift122^sopb/Ift122^sopb; Smo^tm1Amc/Smo^tm1Amc
• Genetic Background: involves: 129X1/SvJ * C3Heb/FeJ * C57BL/6J

embryo

abnormal neural tube morphology ( J:168317 )

• patterning resembles that in mice homozygous for Ift122^sopb alone

nervous system

abnormal neural tube morphology ( J:168317 )

• patterning resembles that in mice homozygous for Ift122^sopb alone

Genotype
MGI:3842142

cx19

• Allelic Composition: Smo^tm1Amc/Smo^tm1Amc; Tulp3^hhkr/Tulp3^hhkr
• Genetic Background: involves: 129X1/SvJ * C3H/HeH * C57BL/6

nervous system

abnormal neural tube morphology ( J:147584 )

• expression of neural tube markers is ventralized compared to in wild-type mice

increased spinal cord size ( J:147584 )

• mice exhibit an expansion of the caudal spinal cord unlike in wild-type mice

cardiovascular system

pericardial edema ( J:147584 )

homeostasis/metabolism

pericardial edema ( J:147584 )

embryo

abnormal neural tube morphology ( J:147584 )

• expression of neural tube markers is ventralized compared to in wild-type mice

Genotype
MGI:6489570

cx20

• Allelic Composition: Ankmy2^{tm1b(EUCOMM)Hmgu}/Ankmy2^{tm1b(EUCOMM)Hmgu}; Smo^tm1Amc/Smo^tm1Amc
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6N

embryo

abnormal embryonic neuroepithelial layer differentiation ( J:297055 )

• ventralized neural tube in E9.5 embryos (ventral cell types ectopically specified at expense of lateral and dorsal types) throughout rostrocaudal extent of spinal cord and hindbrain

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:297055 )

• embryos are arrested at 1012 somite stage (E8.5)

nervous system

abnormal embryonic neuroepithelial layer differentiation ( J:297055 )

• ventralized neural tube in E9.5 embryos (ventral cell types ectopically specified at expense of lateral and dorsal types) throughout rostrocaudal extent of spinal cord and hindbrain

Genotype
MGI:5558104

cx21

• Allelic Composition: Smo^tm1Amc/Smo^tm1Amc; Wdpcp^cys40/Wdpcp^cys40
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

embryo

abnormal embryo development ( J:205269 )

• double mutants show better axial development, more robust growth and more normal head and heart development compared to mice homozygous for Smo^tm1Amc alone