Smo^tm2Amc
Targeted Allele Detail

Summary

• Symbol: Smo^tm2Amc
• Name: smoothened, frizzled class receptor; targeted mutation 2, Andrew P McMahon
• MGI ID: MGI:2176256
• Synonyms: Smo^c, Smo^f, Smo^fl, Smo^flox
• Gene: Smo Location: Chr6:29735502-29761364 bp, + strand Genetic Position: Chr6, 12.36 cM, cytoband A3.3
• Alliance: Smo^tm2Amc page

Intestinal mesenchymal proliferation and expansion are affected in Smo^tm2Amc/Smo^tm2Amc Nkx3-2^tm1(cre)Wez/Nkx3-2⁺ embryos

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:73071
• Parent Cell Line: AV3 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change, Reporter)
• Mutation: Insertion
• Mutation details: Two loxP sites and an frt-flanked neomycin resistance cassette were inserted flanking ~400 bp of the first coding exon 1 from 44 bp upstream through 358 bp downstream of the translation initiation codon. A tau-LacZ gene was also inserted 3' to the neomycin resistance gene. (J:73071)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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cn1	En1^tm2(cre)Wrst/? Gli3^tm1Alj/Gli3^tm1Alj Smo^tm2Amc/Smo^tm2Amc	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6
cn2	Gt(ROSA)26Sor^tm1(Gli2)Jmao/Gt(ROSA)26Sor^+ Smo^tm2Amc/Smo^tm2Amc Nkx3-2^tm1(cre)Wez/Nkx3-2^+	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ
cn3	Smo^tm2Amc/Smo^tm2Amc Nkx3-2^tm1(cre)Wez/Nkx3-2^+	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ
cn4	Smo^tm2Amc/Smo^tm2Amc Slc6a3^tm1(cre)Xz/Slc6a3^+	involves: 129S1/Sv * 129X1/SvJ
cn5	Smo^tm1Amc/Smo^tm2Amc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL * Swiss Webster
cn6	Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/? Smo^tm2Amc/Smo^tm2Amc Tg(Tagln-cre)1Jjl/0	involves: 129S1/Sv * 129X1/SvJ * FVB/N
cn7	Smo^tm2Amc/Smo^tm2.1Amc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+	involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J
cn8	Gli3^tm1Alj/Gli3^tm1Alj Nkx3-2^tm1(cre)Wez/Nkx3-2^+ Smo^tm2Amc/Smo^tm2Amc	involves: 129S6/SvEvTac * 129S7/SvEvBrd * 129X1/SvJ
cn9	Smo^tm2Amc/Smo^tm2.1Amc Nkx2-5^tm1(cre)Rjs/Nkx2-5^+	involves: 129S7/SvEvBrd * 129X1/SvJ
cn10	Gt(ROSA)26Sor^tm6Dym/? Smo^tm2Amc/Smo^tm2Amc Sox9^tm3(cre)Crm/Sox9^+	involves: 129S7/SvEvBrd * 129X1/SvJ
cn11	Smo^tm2Amc/Smo^tm2Amc Isl1^tm1(cre)Tmj/Isl1^+	involves: 129S/Sv * 129X1/SvJ
cn12	Smo^tm1Amc/Smo^tm2Amc Isl1^tm1(cre)Sev/Isl1^+	involves: 129S/Sv * 129X1/SvJ
cn13	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)10Amc/0	involves: 129X1/SvJ
cn14	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)15Amc/0	involves: 129X1/SvJ
cn15	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)3Amc/0	involves: 129X1/SvJ
cn16	Smo^tm2Amc/Smo^tm2.1Amc Tg(Mpz-cre)94Imeg/0	involves: 129X1/SvJ
cn17	Smo^tm1Amc/Smo^tm2Amc Tg(Fgf15-cre)1Hisa/0	involves: 129X1/SvJ
cn18	Smo^tm2Amc/Smo^tm2Amc Tg(Gfap-cre)73.12Mvs/0	involves: 129X1/SvJ * BALB/c * C57BL/6NHsd
cn19	Smo^tm2Amc/Smo^tm2Amc Tg(Tek-cre)12Flv/0	involves: 129X1/SvJ * C3H * C57BL/6
cn20	Smo^tm2Amc/Smo^tm2.1Amc Tg(Tek-cre)12Flv/0	involves: 129X1/SvJ * C57BL/6
cn21	Smo^tm1Amc/Smo^tm2Amc Tg(KRT14-cre)1Amc/0	involves: 129X1/SvJ * C57BL/6 * CBA
cn22	Smo^tm2Amc/Smo^tm2.1Amc Tg(Tnnt2-cre)5Blh/0	involves: 129X1/SvJ * C57BL/6 * DBA/2
cn23	Olig3^tm1(cre)Ynka/Olig3^+ Smo^tm2Amc/Smo^tm2Amc	involves: 129X1/SvJ * C57BL/6J
cn24	Smo^tm2Amc/Smo^tm2.1Amc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129X1/SvJ * C57BL/6J * CBA/J
cn25	Smo^tm2Amc/Smo^tm2Amc Tg(Nes-cre)1Kln/0	involves: 129X1/SvJ * C57BL/6 * SJL
cn26	Smo^tm1Amc/Smo^tm2Amc Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: 129X1/SvJ * CD-1
cn27	Smo^tm2Amc/Smo^tm2Amc Tg(mI56i-cre,EGFP)1Kc/?	involves: 129X1/SvJ * FVB/N
cn28	Smo^tm1Amc/Smo^tm2Amc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J

Phenotypes:

Affected Systems	cn1	cn2	cn3	cn4	cn5	cn6	cn7	cn8	cn9	cn10	cn11	cn12	cn13	cn14	cn15	cn16	cn17	cn18	cn19	cn20	cn21	cn22	cn23	cn24	cn25	cn26	cn27	cn28
show or hide all annotated terms
cardiovascular system						N	√		√		√	√				√			N	N		N		√
cardiovascular system phenotype						N													N	N		N
abnormal artery morphology									√															√
pulmonary artery hypoplasia																								√
abnormal aortic arch morphology												√
right aortic arch												√
blood vessel atresia											√
abnormal cardiovascular development																√
abnormal sixth pharyngeal arch artery morphology												√
decreased cardiac neural crest cell number							√
impaired cardiac neural crest cell differentiation							√
abnormal cardiac outflow tract development									√			√												√
persistent truncus arteriosus									√		√	√												√
transposition of great arteries												√												√
atrial septal defect												√
ventricular septal defect												√
abnormal heart right ventricle morphology											√
abnormal blood circulation											√
cellular			√				√		√			√	√											√
impaired cardiac neural crest cell differentiation							√
abnormal intestinal goblet cell morphology			√
abnormal neural crest cell apoptosis									√															√
abnormal neural crest cell migration									√
abnormal cardiac neural crest cell migration												√
decreased chondrocyte proliferation													√
abnormal enterocyte proliferation			√
craniofacial										√		√									√							√
abnormal cranium morphology																												√
abnormal sphenoid bone morphology																												√
abnormal basisphenoid bone morphology																												√
small alisphenoid bone																												√
absent orbitosphenoid bone																												√
absent presphenoid bone																												√
absent pterygoid process																												√
abnormal temporal bone morphology																												√
absent styloid process																												√
small temporal bone squamous part																												√
abnormal ethmoid bone morphology																												√
abnormal tooth morphology																												√
abnormal incisor morphology																					√
absent lower incisors																												√
abnormal molar morphology																					√
abnormal molar cusp morphology																					√
fused molars																					√
abnormal ameloblast morphology																					√
absent Tomes' process																					√
abnormal enamel organ morphology																					√
abnormal stellate reticulum morphology																					√
abnormal inner dental epithelium morphology																					√
abnormal outer dental epithelium morphology																					√
absent enamel cord																					√
abnormal mandible morphology																												√
abnormal mandibular condyloid process morphology																												√
small mandibular condyloid process										√
abnormal temporomandibular joint morphology										√
abnormal maxilla morphology																												√
absent lacrimal bone																												√
nasal bone hypoplasia																												√
absent palatine bone																												√
absent vomer bone																												√
small zygomatic bone																												√
absent middle ear ossicles																												√
absent incus																												√
absent gonial bone																												√
absent malleus																												√
absent stapes																												√
abnormal craniofacial development																												√
abnormal sixth pharyngeal arch artery morphology												√
Meckel's cartilage hypoplasia																												√
short Meckel's cartilage																												√
absent Reichert cartilage																												√
absent tongue																												√
nasal septum hypoplasia																												√
digestive/alimentary system		N	√					√																				√
digestive/alimentary phenotype		N
abnormal digestive system morphology								√
abnormal intestinal goblet cell morphology			√
absent tongue																												√
abnormal intestine development			√
abnormal intestinal enteroendocrine cell morphology			√
abnormal intestinal smooth muscle morphology			√
abnormal intestine physiology			√
abnormal enterocyte proliferation			√
embryo	√						√		√			√					√							√
abnormal sixth pharyngeal arch artery morphology												√
decreased cardiac neural crest cell number							√
impaired cardiac neural crest cell differentiation							√
abnormal neural crest cell apoptosis									√															√
abnormal neural crest cell migration									√
abnormal cardiac neural crest cell migration												√
decreased embryo size																	√
abnormal rhombomere morphology	√
growth/size/body																	√				√							√
abnormal tooth morphology																												√
abnormal incisor morphology																					√
absent lower incisors																												√
abnormal molar morphology																					√
abnormal molar cusp morphology																					√
fused molars																					√
abnormal ameloblast morphology																					√
absent Tomes' process																					√
abnormal enamel organ morphology																					√
abnormal stellate reticulum morphology																					√
abnormal inner dental epithelium morphology																					√
abnormal outer dental epithelium morphology																					√
absent enamel cord																					√
nasal bone hypoplasia																												√
absent tongue																												√
nasal septum hypoplasia																												√
decreased embryo size																	√
hearing/vestibular/ear																	√											√
absent middle ear ossicles																												√
absent incus																												√
absent gonial bone																												√
absent malleus																												√
absent stapes																												√
abnormal otic vesicle development																	√
absent tympanic ring																												√
limbs/digits/tail													√
abnormal digit morphology													√
short humerus													√
short ulna													√
short fibula													√
short tibia													√
short limbs													√
mortality/aging			√		√							√	√								√
postnatal lethality, complete penetrance													√
postnatal lethality, incomplete penetrance					√
perinatal lethality												√
neonatal lethality, complete penetrance			√																		√
muscle			√
abnormal intestinal smooth muscle morphology			√
nervous system	√		√	N	√		√										√	√					√		√
nervous system phenotype	N			N														N
decreased cardiac neural crest cell number							√
impaired cardiac neural crest cell differentiation							√
abnormal rhombomere morphology	√
abnormal enteric neuron morphology			√
decreased brain size					√
forebrain hypoplasia																	√
enlarged cerebral aqueduct	√
abnormal tectum morphology	√
enlarged tectum	√
abnormal diencephalon morphology																	√
abnormal thalamus morphology																							√		√
abnormal hindbrain morphology	√
abnormal cerebellum morphology	√				√
abnormal cerebellar foliation	√				√
thin external granule cell layer	√
small cerebellum	√				√
astrocytosis																		√
respiratory system																												√
nasal bone hypoplasia																												√
nasal septum hypoplasia																												√
abnormal thyroid cartilage morphology																												√
skeleton										√			√	√	√						√							√
decreased chondrocyte proliferation													√
abnormal cranium morphology																												√
Meckel's cartilage hypoplasia																												√
short Meckel's cartilage																												√
abnormal sphenoid bone morphology																												√
abnormal basisphenoid bone morphology																												√
small alisphenoid bone																												√
absent orbitosphenoid bone																												√
absent presphenoid bone																												√
absent pterygoid process																												√
abnormal temporal bone morphology																												√
absent styloid process																												√
small temporal bone squamous part																												√
abnormal ethmoid bone morphology																												√
abnormal tooth morphology																												√
abnormal incisor morphology																					√
absent lower incisors																												√
abnormal molar morphology																					√
abnormal molar cusp morphology																					√
fused molars																					√
abnormal ameloblast morphology																					√
absent Tomes' process																					√
abnormal enamel organ morphology																					√
abnormal stellate reticulum morphology																					√
abnormal inner dental epithelium morphology																					√
abnormal outer dental epithelium morphology																					√
absent enamel cord																					√
abnormal mandible morphology																												√
abnormal mandibular condyloid process morphology																												√
small mandibular condyloid process										√
abnormal temporomandibular joint morphology										√
abnormal maxilla morphology																												√
absent lacrimal bone																												√
nasal bone hypoplasia																												√
absent palatine bone																												√
absent vomer bone																												√
small zygomatic bone																												√
absent middle ear ossicles																												√
absent incus																												√
absent gonial bone																												√
absent malleus																												√
absent stapes																												√
absent Reichert cartilage																												√
abnormal thyroid cartilage morphology																												√
decreased length of long bones													√	√	√
short humerus													√
short ulna													√
short fibula													√
short tibia													√
short scapula													√
abnormal skeleton development													√
vision/eye																	√											√
absent orbitosphenoid bone																												√
abnormal lens development																	√
abnormal optic cup morphology																	√
abnormal optic stalk morphology																	√
abnormal optic vesicle formation																	√
anophthalmia																	√
normal phenotype																										√	√
no abnormal phenotype detected																										√	√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Mice Carrying this Mutation:	356 assay results 4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	65 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Smo^tm2Amc

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Smo Mutation: 39 strains or lines available

References

• Original: J:73071 Long F, et al., Genetic manipulation of hedgehog signaling in the endochondral skeleton reveals a direct role in the regulation of chondrocyte proliferation. Development. 2001 Dec;128(24):5099-108
• All: 208 reference(s)