All Phenotypes Smo<tm2Amc> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Smo^tm2Amc
targeted mutation 2, Andrew P McMahon
MGI:2176256

Summary

28 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	En1^tm2(cre)Wrst/? Gli3^tm1Alj/Gli3^tm1Alj Smo^tm2Amc/Smo^tm2Amc	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6	MGI:3803100
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	MGI:5518632
cn3	Smo^tm2Amc/Smo^tm2Amc Nkx3-2^tm1(cre)Wez/Nkx3-2⁺	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ	MGI:5518634
cn4	Smo^tm2Amc/Smo^tm2Amc Slc6a3^tm1(cre)Xz/Slc6a3⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5440832
cn5	Smo^tm1Amc/Smo^tm2Amc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL * Swiss Webster	MGI:3665560
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	MGI:5563909
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	MGI:4843924
cn8	Gli3^tm1Alj/Gli3^tm1Alj Nkx3-2^tm1(cre)Wez/Nkx3-2⁺ Smo^tm2Amc/Smo^tm2Amc	involves: 129S6/SvEvTac * 129S7/SvEvBrd * 129X1/SvJ	MGI:5518637
cn9	Smo^tm2Amc/Smo^tm2.1Amc Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺	involves: 129S7/SvEvBrd * 129X1/SvJ	MGI:4843927
cn10	Gt(ROSA)26Sor^tm6Dym/? Smo^tm2Amc/Smo^tm2Amc Sox9^tm3(cre)Crm/Sox9⁺	involves: 129S7/SvEvBrd * 129X1/SvJ	MGI:4366499
cn11	Smo^tm2Amc/Smo^tm2Amc Isl1^tm1(cre)Tmj/Isl1⁺	involves: 129S/Sv * 129X1/SvJ	MGI:5563905
cn12	Smo^tm1Amc/Smo^tm2Amc Isl1^tm1(cre)Sev/Isl1⁺	involves: 129S/Sv * 129X1/SvJ	MGI:3689403
cn13	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)10Amc/0	involves: 129X1/SvJ	MGI:3584111
cn14	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)15Amc/0	involves: 129X1/SvJ	MGI:3584113
cn15	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)3Amc/0	involves: 129X1/SvJ	MGI:3584114
cn16	Smo^tm2Amc/Smo^tm2.1Amc Tg(Mpz-cre)94Imeg/0	involves: 129X1/SvJ	MGI:4843926
cn17	Smo^tm1Amc/Smo^tm2Amc Tg(Fgf15-cre)1Hisa/0	involves: 129X1/SvJ	MGI:6434366
cn18	Smo^tm2Amc/Smo^tm2Amc Tg(Gfap-cre)73.12Mvs/0	involves: 129X1/SvJ * BALB/c * C57BL/6NHsd	MGI:4838615
cn19	Smo^tm2Amc/Smo^tm2Amc Tg(Tek-cre)12Flv/0	involves: 129X1/SvJ * C3H * C57BL/6	MGI:5563907
cn20	Smo^tm2Amc/Smo^tm2.1Amc Tg(Tek-cre)12Flv/0	involves: 129X1/SvJ * C57BL/6	MGI:4843921
cn21	Smo^tm1Amc/Smo^tm2Amc Tg(KRT14-cre)1Amc/0	involves: 129X1/SvJ * C57BL/6 * CBA	MGI:2651648
cn22	Smo^tm2Amc/Smo^tm2.1Amc Tg(Tnnt2-cre)5Blh/0	involves: 129X1/SvJ * C57BL/6 * DBA/2	MGI:4843922
cn23	Olig3^tm1(cre)Ynka/Olig3⁺ Smo^tm2Amc/Smo^tm2Amc	involves: 129X1/SvJ * C57BL/6J	MGI:3844943
cn24	Smo^tm2Amc/Smo^tm2.1Amc H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:4843923
cn25	Smo^tm2Amc/Smo^tm2Amc Tg(Nes-cre)1Kln/0	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3844949
cn26	Smo^tm1Amc/Smo^tm2Amc Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: 129X1/SvJ * CD-1	MGI:3689417
cn27	Smo^tm2Amc/Smo^tm2Amc Tg(mI56i-cre,EGFP)1Kc/?	involves: 129X1/SvJ * FVB/N	MGI:3617990
cn28	Smo^tm1Amc/Smo^tm2Amc H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: C57BL/6J * CBA/J	MGI:3716198

Allelic Composition	En1^tm2(cre)Wrst/? Gli3^tm1Alj/Gli3^tm1Alj Smo^tm2Amc/Smo^tm2Amc
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1^tm2(cre)Wrst mutation (1 available); any En1 mutation (32 available)
Gli3^tm1Alj mutation (1 available); any Gli3 mutation (80 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

nervous system

nervous system phenotype ( J:137136 )

N	• inferior colliculus normal • isthmus generally normal • superior colliculus normal

abnormal rhombomere morphology ( J:137136 )

• Purkinje projections into posterior isthmus region

• some Purkinje cells in anterior isthmus region

• dorsal mesencephalon, isthmus, and r1 not distinct at E10.5 and E12.5

• isthmus flexure less prominent

• thickness of ventricular zone increased

enlarged cerebral aqueduct ( J:137136 )

• expanded mesencephalic ventricle at E10.5 and E12.5

abnormal tectum morphology ( J:137136 )

• misshapen

enlarged tectum ( J:137136 )

abnormal hindbrain morphology ( J:137136 )

abnormal cerebellum morphology ( J:137136 )

abnormal cerebellar foliation ( J:137136 )

• abnormal at E18.5

thin external granule cell layer ( J:137136 )

• external granule cell layer thinner at birth

small cerebellum ( J:137136 )

• at birth

embryo

abnormal rhombomere morphology ( J:137136 )

• some Purkinje cells in anterior isthmus region

• Purkinje projections into posterior isthmus region

• dorsal mesencephalon, isthmus, and r1 not distinct at E10.5 and E12.5

• isthmus flexure less prominent

• thickness of ventricular zone increased

Allelic Composition	Gt(ROSA)26Sor^{tm1(Gli2)Jmao}/Gt(ROSA)26Sor⁺ Smo^tm2Amc/Smo^tm2Amc Nkx3-2^tm1(cre)Wez/Nkx3-2⁺
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm1(Gli2)Jmao} mutation (0 available); any Gt(ROSA)26Sor mutation (942 available)
Nkx3-2^tm1(cre)Wez mutation (0 available); any Nkx3-2 mutation (21 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

Gli2 expression, but not Gli3 de-repression, rescues intestinal phenotypes in Smo^tm2Amc/Smo^tm2Amc Nkx3-2^tm1(cre)Wez/Nkx3-2⁺ embryos

digestive/alimentary system

digestive/alimentary phenotype ( J:199664 )

N	• intestinal development is rescued

Allelic Composition	Smo^tm2Amc/Smo^tm2Amc Nkx3-2^tm1(cre)Wez/Nkx3-2⁺
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx3-2^tm1(cre)Wez mutation (0 available); any Nkx3-2 mutation (21 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:199664 )

• mice die immediately after birth

digestive/alimentary system

abnormal intestinal goblet cell morphology ( J:199664 )

• lack of Goblet and enteroendocrine cell lineage differentiation at E18.5

abnormal intestine development ( J:199664 )

• at E18.5, mice exhibit fewer mesenchyme cells between thin layers of mesentery and intestinal epithelium compared with control mice

abnormal intestinal enteroendocrine cell morphology ( J:199664 )

• lack of Goblet and enteroendocrine cell lineage differentiation at E18.5

abnormal intestinal smooth muscle morphology ( J:199664 )

• decreased SMA+ or Desmin+ intestinal smooth muscle cells

abnormal intestine physiology ( J:199664 )

• absent intestinal mesenchymal proliferation

abnormal enterocyte proliferation ( J:199664 )

• intestinal epithelium do not proliferate at E18.5

muscle

abnormal intestinal smooth muscle morphology ( J:199664 )

• decreased SMA+ or Desmin+ intestinal smooth muscle cells

cellular

abnormal intestinal goblet cell morphology ( J:199664 )

• lack of Goblet and enteroendocrine cell lineage differentiation at E18.5

abnormal enterocyte proliferation ( J:199664 )

• intestinal epithelium do not proliferate at E18.5

nervous system

abnormal enteric neuron morphology ( J:199664 )

• decreased population

Allelic Composition	Smo^tm2Amc/Smo^tm2Amc Slc6a3^tm1(cre)Xz/Slc6a3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a3^tm1(cre)Xz mutation (2 available); any Slc6a3 mutation (66 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

nervous system

nervous system phenotype ( J:188348 )

N	• mice do not exhibit any dopaminergic neuron loss the substantia nigra pars compacta and ventral tegmental area

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smo^tm1Amc mutation (1 available); any Smo mutation (39 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)
Tg(Nes-cre)1Kln mutation (4 available)

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

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

Allelic Composition	Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/? Smo^tm2Amc/Smo^tm2Amc Tg(Tagln-cre)1Jjl/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo} mutation (10 available); any Gt(ROSA)26Sor mutation (942 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)
Tg(Tagln-cre)1Jjl mutation (0 available)

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

cardiovascular system

cardiovascular system phenotype ( J:204743 )

N	• cardiopulmonary development is not disrupted

Allelic Composition	Smo^tm2Amc/Smo^tm2.1Amc H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺
Genetic Background	involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1Sor mutation (8 available); any Gt(ROSA)26Sor mutation (942 available)
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)
Smo^tm2.1Amc mutation (0 available); any Smo mutation (39 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

embryo

decreased cardiac neural crest cell number ( J:135134 )

• the number of cardiac neural crest cells reaching the outflow tract is moderately reduced compared to in wild-type mice

impaired cardiac neural crest cell differentiation ( J:135134 )

• mice exhibit abnormal patterning of cardiac neural crest cells compared to in wild-type mice

cardiovascular system

decreased cardiac neural crest cell number ( J:135134 )

• the number of cardiac neural crest cells reaching the outflow tract is moderately reduced compared to in wild-type mice

impaired cardiac neural crest cell differentiation ( J:135134 )

• mice exhibit abnormal patterning of cardiac neural crest cells compared to in wild-type mice

nervous system

decreased cardiac neural crest cell number ( J:135134 )

• the number of cardiac neural crest cells reaching the outflow tract is moderately reduced compared to in wild-type mice

impaired cardiac neural crest cell differentiation ( J:135134 )

• mice exhibit abnormal patterning of cardiac neural crest cells compared to in wild-type mice

cellular

impaired cardiac neural crest cell differentiation ( J:135134 )

• mice exhibit abnormal patterning of cardiac neural crest cells compared to in wild-type mice

Allelic Composition	Gli3^tm1Alj/Gli3^tm1Alj Nkx3-2^tm1(cre)Wez/Nkx3-2⁺ Smo^tm2Amc/Smo^tm2Amc
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3^tm1Alj mutation (1 available); any Gli3 mutation (80 available)
Nkx3-2^tm1(cre)Wez mutation (0 available); any Nkx3-2 mutation (21 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

Gli2 expression, but not Gli3 de-repression, rescues intestinal phenotypes in Smo^tm2Amc/Smo^tm2Amc Nkx3-2^tm1(cre)Wez/Nkx3-2⁺ embryos

digestive/alimentary system

abnormal digestive system morphology ( J:199664 )

• mice exhibit the same defects as in Nkx3-2^tm1(cre)Wez/Nkx3-2⁺ Smo^m2Amc/Smo^m2Amc mice

Allelic Composition	Smo^tm2Amc/Smo^tm2.1Amc Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺
Genetic Background	involves: 129S7/SvEvBrd * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5^tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (21 available)
Smo^tm2.1Amc mutation (0 available); any Smo mutation (39 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

cardiovascular system

abnormal artery morphology ( J:135134 )

• at E10.5 and E18.5, mice exhibit abnormal arch-artery patterning compared to in wild-type mice

abnormal cardiac outflow tract development ( J:135134 )

• at E10.5, mice exhibit short outflow tract compared with wild-type mice

• mice exhibit cell death in the anterior heart field unlike in wild-type mice

persistent truncus arteriosus ( J:135134 )

• at E18.5

embryo

abnormal neural crest cell apoptosis ( J:135134 )

• mice exhibit cell death in neural crest cells unlike in wild-type mice

abnormal neural crest cell migration ( J:135134 )

• mice exhibit abnormal neural crest cells localization and septation defects compared with wild-type mice

cellular

abnormal neural crest cell apoptosis ( J:135134 )

• mice exhibit cell death in neural crest cells unlike in wild-type mice

abnormal neural crest cell migration ( J:135134 )

• mice exhibit abnormal neural crest cells localization and septation defects compared with wild-type mice

Allelic Composition	Gt(ROSA)26Sor^tm6Dym/? Smo^tm2Amc/Smo^tm2Amc Sox9^tm3(cre)Crm/Sox9⁺
Genetic Background	involves: 129S7/SvEvBrd * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm6Dym mutation (0 available); any Gt(ROSA)26Sor mutation (942 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)
Sox9^tm3(cre)Crm mutation (1 available); any Sox9 mutation (32 available)

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

skeleton

small mandibular condyloid process ( J:153743 )

• at E17.5, the temporomandibular condyle is much smaller in size with loss of growth plate organization unlike in wild-type mice

abnormal temporomandibular joint morphology ( J:153743 )

• the temporomandibular joint forms in close proximity to the condyle resulting in an absence of the lower joint cavity unlike in wild-type mice

craniofacial

small mandibular condyloid process ( J:153743 )

• at E17.5, the temporomandibular condyle is much smaller in size with loss of growth plate organization unlike in wild-type mice

abnormal temporomandibular joint morphology ( J:153743 )

• the temporomandibular joint forms in close proximity to the condyle resulting in an absence of the lower joint cavity unlike in wild-type mice

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm1(cre)Tmj mutation (0 available); any Isl1 mutation (33 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

cardiovascular system

blood vessel atresia ( J:204743 )

• embryos show severe inflow tract defects with pulmonary vein atresia

persistent truncus arteriosus ( J:204743 )

abnormal heart right ventricle morphology ( J:204743 )

• embryos show severe inflow tract defects with pulmonary vein atresia

abnormal blood circulation ( J:204743 )

• embryos show persistence of aortopulmonary collateral circulation

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm1(cre)Sev mutation (1 available); any Isl1 mutation (33 available)
Smo^tm1Amc mutation (1 available); any Smo mutation (39 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

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

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

Find Mice

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

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

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

Find Mice

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

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

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

Find Mice

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

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

Allelic Composition	Smo^tm2Amc/Smo^tm2.1Amc Tg(Mpz-cre)94Imeg/0
Genetic Background	involves: 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smo^tm2.1Amc mutation (0 available); any Smo mutation (39 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)
Tg(Mpz-cre)94Imeg mutation (0 available)

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

cardiovascular system

abnormal cardiovascular development ( J:135134 )

• authors state that mice exhibit identical cardiac defects as observed in Smo^tm2Amc/Smo^tm2.1Amc Tg(Wnt1-cre)11Rth mice

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

Find Mice

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

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

Allelic Composition	Smo^tm2Amc/Smo^tm2Amc Tg(Gfap-cre)73.12Mvs/0
Genetic Background	involves: 129X1/SvJ * BALB/c * C57BL/6NHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)
Tg(Gfap-cre)73.12Mvs mutation (2 available)

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

nervous system

nervous system phenotype ( J:165495 )

N	• mice exhibit normal forebrain morphology and cytoarchitecture • the number of astrocytes in the cortex is normal

astrocytosis ( J:165495 )

• mild in the cortex

Allelic Composition	Smo^tm2Amc/Smo^tm2Amc Tg(Tek-cre)12Flv/0
Genetic Background	involves: 129X1/SvJ * C3H * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)
Tg(Tek-cre)12Flv mutation (1 available)

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

cardiovascular system

cardiovascular system phenotype ( J:204743 )

N	• cardiopulmonary development is not disrupted

Allelic Composition	Smo^tm2Amc/Smo^tm2.1Amc Tg(Tek-cre)12Flv/0
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

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

cardiovascular system

cardiovascular system phenotype ( J:135134 )

N	• mice exhibit normal outflow tract development

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

Find Mice

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

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

Allelic Composition	Smo^tm2Amc/Smo^tm2.1Amc Tg(Tnnt2-cre)5Blh/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

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

cardiovascular system

cardiovascular system phenotype ( J:135134 )

N	• mice exhibit normal outflow tract development

Allelic Composition	Olig3^tm1(cre)Ynka/Olig3⁺ Smo^tm2Amc/Smo^tm2Amc
Genetic Background	involves: 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Olig3^tm1(cre)Ynka mutation (0 available); any Olig3 mutation (9 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

nervous system

abnormal thalamus morphology ( J:147427 )

• based on molecular marker expression analysis, the intergeniculate leaflet (IGL) nucleus is dramatically reduced in size and cell number at E17.5

Allelic Composition	Smo^tm2Amc/Smo^tm2.1Amc H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129X1/SvJ * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)
Smo^tm2.1Amc mutation (0 available); any Smo mutation (39 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

cardiovascular system

abnormal artery morphology ( J:135134 )

• at E10.5 and E18.5, mice exhibit arch-artery defects compared with wild-type mice

pulmonary artery hypoplasia ( J:135134 )

• in 4 of 23 mice

abnormal cardiac outflow tract development ( J:135134 )

• mice exhibit partial septation of the outflow tract unlike wild-type mice

persistent truncus arteriosus ( J:135134 )

• in 17 of 23 mice

transposition of great arteries ( J:135134 )

• 2 of 23 mice exhibit complete separation of a transposed aorta and hypoplastic pulmonary artery unlike in wild-type mice

embryo

abnormal neural crest cell apoptosis ( J:135134 )

• mice exhibit cell death in neural crest cells unlike in wild-type mice

cellular

abnormal neural crest cell apoptosis ( J:135134 )

• mice exhibit cell death in neural crest cells unlike in wild-type mice

Allelic Composition	Smo^tm2Amc/Smo^tm2Amc Tg(Nes-cre)1Kln/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)
Tg(Nes-cre)1Kln mutation (4 available)

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

nervous system

abnormal thalamus morphology ( J:147427 )

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

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:114494 )

• mutants show normal program of chondrocyte and osteoblast development

Allelic Composition	Smo^tm2Amc/Smo^tm2Amc Tg(mI56i-cre,EGFP)1Kc/?
Genetic Background	involves: 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)
Tg(mI56i-cre,EGFP)1Kc mutation (1 available)

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

normal phenotype

no abnormal phenotype detected ( J:102950 )

• viable with no gross phenotype

• cortical interneuron profiles are normal

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)
Smo^tm1Amc mutation (1 available); any Smo mutation (39 available)
Smo^tm2Amc mutation (1 available); any Smo mutation (39 available)

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

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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