Overview

Also Known As: Smo-

These Smo knock-out mice have an embryonic lethal phenotype and exhibit ventral cyclopia and holoprosencephaly.

Donating Investigator

Andrew P McMahon, University of Southern California

Genetic overview

Genetic Background	Generation

Smo^tm1Amc

Allele Type	Gene Symbol	Gene Name
Targeted (Null/Knockout)	Smo	smoothened, frizzled class receptor

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Research Applications

Developmental Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice that are heterozygous for the targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past 9.5 days post coitum. Homozygous mutant mice exhibit ventral cyclopia and holoprosencephaly. During development homozygous mice fail to undergo embryonic turning, closure of the ventral midgut and normal rightward looping of the heart. The embryonic heart remains a linear tube. This mutant mouse strain represents a model that may be useful in studies of tumors and neural tube defects due to disruption of the hedgehog pathways.

When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the skin (Stock No. 004782), this mutant mouse strain may be useful in studies of hedgehog signalling and cell proliferation in the dental epithelium.

When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the nervous system (Stock No. 003771), this mutant mouse strain may be useful in studies of hedgehog signalling and cerebellar foliation.

When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the midbrain/dorsal spinal cord (Stock No. 007807), this mutant mouse strain may be useful in studies of craniofacial development.

Development

A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt a 400 bp region in the first exon of the targeted allele. The construct was electroporated into 129X1/SvJ derived AV3 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J derived blastocysts. Chimeric male animals were bred to 129X1/SvJ mice. The chimeric male was bred to a female bearing a Gtrosa26 allele. The alleles were maintained together by the Donating Investigator as a TM/Tg combination for a number of generations by heterozygote X heterozygote crosses. Upon arrival at The Jackson Laboratory, the transgenic allele was eliminated.

Control Suggestions

Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Smo^tm1Amc

Allele Symbol: Smo^tm1Amc

Allele Name	targeted mutation 1, Andrew P McMahon
Allele Type	Targeted (Null/Knockout)
Allele Synonym(s)	targeted mutation 1, Andrew P McMahon; Smo^tm1Amc
Gene Symbol and Name	Smo, smoothened, frizzled class receptor
Gene Synonym(s)	E130215L21Rik; E130215L21Rik; bent body; Gx; SMOH; FZD11; bnb; RIKEN cDNA E130215L21 gene; Smoh; CRJS
Strain of Origin	129X1/SvJ
Chromosome	6
Molecular Note	An frt-flanked neomycin resistance cassette replaced a segment containing 44 bp upstream and 358 bp downstream of the translation initiation codon.
Mutations Made By	Andrew McMahon, University of Southern California

Disease/Phenotype

Disease Terms

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Smo^tm1Amc related

Developmental Biology Research
- Embryonic Lethality (Homozygous)
- Neural Tube Defects
- Internal/Organ Defects
  - heart

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

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

craniofacial phenotype

abnormal ameloblast morphology
- amelolasts exhibit premature withdrawal from the cell cylce
- 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

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

abnormal incisor morphology
- incisors are smaller in diameter and exhibit abnormal folding of the inner dental epithelium
- incisors show an absence of the papillary layer

abnormal inner dental epithelium morphology
- incisors exhibit abnormal folding of the inner dental epithelium

abnormal molar cusp morphology
- cusps of first molars are shallow, broad, underdeveloped and misshapen

abnormal molar morphology
- dental cord is virtually absent
- first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage
- the outer dental epithelium forms a continuous layer without the gaps seen in controls
- the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

abnormal outer dental epithelium morphology
- in molars, the outer dental epithelium forms a continuous layer without the gaps observed in controls

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

absent enamel cord
- molars develop close to the oral surface, indicating virtual absence of a dental cord

absent Tomes' process
- Tomes' processes do not develop

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

growth/size/body region phenotype

abnormal ameloblast morphology
- amelolasts exhibit premature withdrawal from the cell cylce
- 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

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

abnormal incisor morphology
- incisors are smaller in diameter and exhibit abnormal folding of the inner dental epithelium
- incisors show an absence of the papillary layer

abnormal inner dental epithelium morphology
- incisors exhibit abnormal folding of the inner dental epithelium

abnormal molar cusp morphology
- cusps of first molars are shallow, broad, underdeveloped and misshapen

abnormal molar morphology
- dental cord is virtually absent
- first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage
- the outer dental epithelium forms a continuous layer without the gaps seen in controls
- the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

abnormal outer dental epithelium morphology
- in molars, the outer dental epithelium forms a continuous layer without the gaps observed in controls

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

absent enamel cord
- molars develop close to the oral surface, indicating virtual absence of a dental cord

absent Tomes' process
- Tomes' processes do not develop

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

mortality/aging

neonatal lethality, complete penetrance
- pups die within 1 day after birth

skeleton phenotype

abnormal ameloblast morphology
- amelolasts exhibit premature withdrawal from the cell cylce
- 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

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

abnormal incisor morphology
- incisors are smaller in diameter and exhibit abnormal folding of the inner dental epithelium
- incisors show an absence of the papillary layer

abnormal inner dental epithelium morphology
- incisors exhibit abnormal folding of the inner dental epithelium

abnormal molar cusp morphology
- cusps of first molars are shallow, broad, underdeveloped and misshapen

abnormal molar morphology
- dental cord is virtually absent
- first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage
- the outer dental epithelium forms a continuous layer without the gaps seen in controls
- the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

abnormal outer dental epithelium morphology
- in molars, the outer dental epithelium forms a continuous layer without the gaps observed in controls

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

absent enamel cord
- molars develop close to the oral surface, indicating virtual absence of a dental cord

absent Tomes' process
- Tomes' processes do not develop

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

Genotype: Smo^tm1Amc/Smo^tm2Amc H2az2^{Tg(Wnt1-cre)11Rth}/?
involves: C57BL/6J * CBA/J

craniofacial phenotype

abnormal basisphenoid bone morphology
- rostral half is missing

abnormal craniofacial development

abnormal cranium morphology

abnormal ethmoid bone morphology
- mesethmoid bone is missing

abnormal mandible morphology
- 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
- at E9.5, there is an increase in apoptotic cells along the midline
- the dentate is reduced in length but the lamina is thicker

abnormal mandibular condyloid process morphology
- mice have an extra condylar process

abnormal maxilla morphology
- premaxilla and maxilla retain their lateral-most parts only

abnormal sphenoid bone morphology

abnormal temporal bone morphology

abnormal tooth morphology
- teeth are malformed and arrested

absent gonial bone

absent incus

absent lacrimal bone
- absent or appears as a tiny fragment

absent lower incisors

absent malleus

absent middle ear ossicles

absent orbitosphenoid bone
- missing

absent palatine bone

absent presphenoid bone

absent pterygoid process

absent Reichert cartilage
- the basi- cerato- and thyro hyoid elements are missing

absent stapes

absent styloid process

absent tongue

absent vomer bone

Meckel's cartilage hypoplasia
- hypoplastic and short

nasal bone hypoplasia
- nasal bone is hypoplastic

nasal septum hypoplasia
- the nasal septum is incomplete

short Meckel's cartilage

small alisphenoid bone
- reduced

small temporal bone squamous part
- reduced

small zygomatic bone
- reduced

digestive/alimentary phenotype

absent tongue

growth/size/body region phenotype

abnormal tooth morphology
- teeth are malformed and arrested

absent lower incisors

absent tongue

nasal septum hypoplasia
- the nasal septum is incomplete

hearing/vestibular/ear phenotype

absent gonial bone

absent incus

absent malleus

absent middle ear ossicles

absent stapes

absent tympanic ring

respiratory system phenotype

abnormal thyroid cartilage morphology

nasal septum hypoplasia
- the nasal septum is incomplete

skeleton phenotype

abnormal basisphenoid bone morphology
- rostral half is missing

abnormal cranium morphology

abnormal ethmoid bone morphology
- mesethmoid bone is missing

abnormal mandible morphology
- 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
- at E9.5, there is an increase in apoptotic cells along the midline
- the dentate is reduced in length but the lamina is thicker

abnormal mandibular condyloid process morphology
- mice have an extra condylar process

abnormal maxilla morphology
- premaxilla and maxilla retain their lateral-most parts only

abnormal sphenoid bone morphology

abnormal temporal bone morphology

abnormal thyroid cartilage morphology

abnormal tooth morphology
- teeth are malformed and arrested

absent gonial bone

absent incus

absent lacrimal bone
- absent or appears as a tiny fragment

absent lower incisors

absent malleus

absent middle ear ossicles

absent orbitosphenoid bone
- missing

absent palatine bone

absent presphenoid bone

absent pterygoid process

absent Reichert cartilage
- the basi- cerato- and thyro hyoid elements are missing

absent stapes

absent styloid process

absent vomer bone

Meckel's cartilage hypoplasia
- hypoplastic and short

nasal bone hypoplasia
- nasal bone is hypoplastic

short Meckel's cartilage

small alisphenoid bone
- reduced

small temporal bone squamous part
- reduced

small zygomatic bone
- reduced

vision/eye phenotype

absent orbitosphenoid bone
- missing

Genotype: Smo^tm1Amc/Smo^tm1Amc
involves: 129X1/SvJ * C57BL/6

cardiovascular system phenotype

abnormal vitelline vasculature morphology
- 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

embryo phenotype

abnormal embryo development
- embryos are identical to Shh/Ihh double mutant embryos

abnormal embryo turning
- at E8.5 embryos are in a primitive, unturned position

abnormal vitelline vasculature morphology
- 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: Smo^tm1Amc/Smo^tm1Amc Tg(Pdx1-cre)6Tuv/0
involves: 129X1/SvJ * FVB/N

mammalian phenotype

digestive/alimentary phenotype
- Normal - ventral pancreas and gall bladder development is normal at E10.5

Genotype: Smo^tm1Amc/Smo^tm1Amc
involves: 129X1/SvJ * CD-1

embryo phenotype

embryonic growth retardation
- at E9.0

growth/size/body region phenotype

embryonic growth retardation
- at E9.0

nervous system phenotype

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

References

Additional - Smo^tm1Amc related

Technical Support

Contact Technical Support

Genotyping Protocols
- Separated PCR:Smo^tm1Amc
- Genotyping resources and troubleshooting
Breeding Considerations

This strain originated on a 129 background, and is maintained on the same. Upon arrival at The Jackson Laboratory, the transgenic allele was eliminated. Expected coat color is: White Bellied Agouti
- Additional Breeding and Husbandry Support
Citation
When using the Smo- mouse strain in a publication, please cite the originating article(s) and include JAX stock #004288 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous or Wild-type for Smo<tm1Amc>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.

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Also Known As: Smo-

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Smotm1Amc

Allele Symbol: Smotm1Amc

Disease Terms

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Smotm1Amc related

Mammalian Phenotype Terms by Genotype

Genotype: Smotm1Amc/Smotm2Amc Tg(KRT14-cre)1Amc/0involves: 129X1/SvJ * C57BL/6 * CBA

craniofacial phenotype

growth/size/body region phenotype

mortality/aging

skeleton phenotype

Genotype: Smotm1Amc/Smotm2Amc H2az2Tg(Wnt1-cre)11Rth/?involves: C57BL/6J * CBA/J

craniofacial phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

respiratory system phenotype

skeleton phenotype

vision/eye phenotype

Genotype: Smotm1Amc/Smotm1Amcinvolves: 129X1/SvJ * C57BL/6

cardiovascular system phenotype

embryo phenotype

Genotype: Smotm1Amc/Smotm1Amc Tg(Pdx1-cre)6Tuv/0involves: 129X1/SvJ * FVB/N

mammalian phenotype

Genotype: Smotm1Amc/Smotm1Amcinvolves: 129X1/SvJ * CD-1

embryo phenotype

growth/size/body region phenotype

nervous system phenotype

References

Additional - Smotm1Amc related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Additional Use Restrictions Apply

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Smo^tm1Amc

Allele Symbol: Smo^tm1Amc

Genotype: Smo^tm1Amc related

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

Genotype: Smo^tm1Amc/Smo^tm2Amc H2az2^{Tg(Wnt1-cre)11Rth}/?
involves: C57BL/6J * CBA/J

Genotype: Smo^tm1Amc/Smo^tm1Amc
involves: 129X1/SvJ * C57BL/6

Genotype: Smo^tm1Amc/Smo^tm1Amc Tg(Pdx1-cre)6Tuv/0
involves: 129X1/SvJ * FVB/N

Genotype: Smo^tm1Amc/Smo^tm1Amc
involves: 129X1/SvJ * CD-1

Additional - Smo^tm1Amc related