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| Homozygous CdonlacZ-2 (or CdolacZ-2) mice harbor a beta-galactosidase (lacZ) "knock-in" mutation that also abolishes expression of the targeted Cdon (cell adhesion molecule-related/down-regulated by oncogenes) gene. This strain may be useful in studying holoprosencephaly (HPE; a common defect of human forebrain development), craniofacial/brain development and the regulation of Sonic Hedgehog (Shh) signaling pathways. | ||||||||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
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Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Donating Investigator Robert Krauss, Mount Sinai School of Medicine Description
Homozygous CdonlacZ-2 (or CdolacZ-2) mice on a "129/Sv" genetic background are viable and fertile, harboring a beta-galactosidase (lacZ) "knock-in" mutation that also abolishes targeted gene expression. LacZ expression mimics the pattern observed for the endogenous gene. On a 129/Sv background, Cdo-deficient mice exhibit craniofacial midline defects identified as microforms of holoprosencephaly (HPE; a common defect of human forebrain development) with partial penetrance, grossly normal limb development and no perinatal lethality. These CdonlacZ-2 (or CdolacZ-2) mice are a genetic model of HPE and may be useful in studying craniofacial/brain development and the regulation of Sonic Hedgehog (Shh) signaling pathways, as well as for lacZ expression in Cdo-expressing tissues.In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype of these mutant mice could vary from that originally described. For example, the penetrance and expressivity of HPE phenotypes for Cdo-deficient mice is dependent upon genetic background: homozygotes on the C57BL/6 genetic background display severe semilobar HPE and cebocephaly and perinatal lethality with high penetrance, while homozygotes on a mixed 129/Sv x C57BL/6 genetic background display craniofacial microforms of HPE with high penetrance and partial perinatal lethality.
Development
A targeting vector was designed to insert an IRES-lacZ reporter gene (internal ribosome entry site, beta-galactosidase, GTI-2 promoter-neo cassette and polyA sequence) into the third coding exon of the targeted gene. The donating investigator reports that the construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-derived R1 embryonic stem (ES) cells, and chimeric males were bred with 129S6/SvEvTac females to obtain mutant animals. These mutant mice were maintained mostly by heterozygous intercross (with some wildtype or 129S6/SvEvTac breedings possible as well) for many generations prior to arrival at The Jackson Laboratory. Upon arrival at The Jackson Laboratory, these mice were bred to 129S1/SvImJ inbred mice (Stock No. 002448) for at least one generation to establish the colony.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 002448 129S1/SvImJ | (approximate) | |
| Considerations for Choosing Controls | ||
Related Strains
lacZ Expression Strains
View lacZ Expression Strains (186 strains)
Additional Web Information
Fluorescent Proteins/lacZ Systems
Phenotype
Phenotype Information
Holoprosencephaly - Models with phenotypic similarity to human disease where etiologies are distinct.2
2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Cdontm2Rsk/Cdontm2Rsk
involves: 129/Sv * C57BL/6
- lethality-prenatal/perinatal
- neonatal lethality (MGI Ref ID J:82221)
- exhibit a similar range and frequency of neonatal lethality as Cdontm1Rsk homozygotes
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:82221)
- exhibit a similar range and frequency of lethality as Cdontm1Rsk homozygotes
- growth/size phenotype
- decreased body size (MGI Ref ID J:82221)
- craniofacial phenotype
- abnormal craniofacial morphology (MGI Ref ID J:82221)
- about 95% of mutants exhibit craniofacial abnormalities
- abnormal incisor morphology (MGI Ref ID J:82221)
- mutants either have a single, central maxillary incisor or no maxillary incisors
- abnormal lip morphology (MGI Ref ID J:82221)
- dysgenesis of the philtrum
- abnormal palate morphology (MGI Ref ID J:82221)
- lack a primary palate
- abnormal premaxilla morphology (MGI Ref ID J:82221)
- fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis
- basisphenoid bone foramen (MGI Ref ID J:82221)
- small basisphenoid bone (MGI Ref ID J:82221)
- skeleton phenotype
- abnormal premaxilla morphology (MGI Ref ID J:82221)
- fusion of the premaxillary bone, resulting in severe pyriform aperture stenosis
- basisphenoid bone foramen (MGI Ref ID J:82221)
- small basisphenoid bone (MGI Ref ID J:82221)
- respiratory system phenotype
- abnormal nose morphology (MGI Ref ID J:82221)
- increase in presumptive mesenchyme between the nasal capsule and the oral cavity
- although medial nasal process (MNP) fusion occurs normally at E11.5, later stage embryos maintain an epithelialized furrow at the MNP midline and have a recessed inferior border
- abnormal nasal septum morphology (MGI Ref ID J:82221)
- nasal septum is reduced in size and there is agenesis or hypoplasia of the nasal septal cartilage
- digestive/alimentary phenotype
- abnormal palate morphology (MGI Ref ID J:82221)
- lack a primary palate
- nervous system phenotype
- holoprosencephaly (MGI Ref ID J:82221)
- microform holoprosencephaly
Cdontm2Rsk/Cdontm2Rsk
B6.129-Cdontm2Rsk
- lethality-prenatal/perinatal
- perinatal lethality (MGI Ref ID J:109070)
- homozygotes that develop holoprosencephaly (80-85%) die perinatally
- life span-post-weaning/aging
- premature death (MGI Ref ID J:109070)
- 15 to 20% do not exhibit overt signs of holoprosencephaly and survive beyond the perinatal period, but die within 4-12 weeks of birth
- nervous system phenotype
- abnormal brain ventricle morphology (MGI Ref ID J:109070)
- enlarged lateral ventricles (MGI Ref ID J:109070)
- mutants that survive the postnatal period have enlarged lateral ventricles with a disruption of the septum, consistent with hydrocephalus
- abnormal forebrain morphology (MGI Ref ID J:109070)
- mutants that survive the postnatal period exhibit highly enlarged forebrains with dilated blood vessels and olfactory bulbs
- mutants that survive the postnatal period exhibit an enlarged gap between the hypothalamus and pons, indicating a slight truncation of the forebrain
- abnormal cerebral cortex morphology (MGI Ref ID J:109070)
- the dorsal midline of cortices exhibit an abnormal structure, lacking the lamina terminalis
- thin cerebral cortex (MGI Ref ID J:109070)
- the posterior telencephalon of E18.5 brains shows a translucent appearance, indicating thinning of the cortex
- variable severity of cortical thinning; mutants with holoprosencephaly exhibit the most severe thinning
- enlarged lateral ventricles (MGI Ref ID J:109070)
- mutants that survive the postnatal period have enlarged lateral ventricles with a disruption of the septum, consistent with hydrocephalus
- abnormal neuronal precursor proliferation (MGI Ref ID J:109070)
- primary neural progenitor cells from E14.5 cortices display a reduced proliferation rate
- holoprosencephaly (MGI Ref ID J:109070)
- 80-85% develop severe forms of holoprosencephaly
- hydroencephaly (MGI Ref ID J:109070)
- mutants that survive the postnatal period develop hydroencephaly
- craniofacial phenotype
- domed skull (MGI Ref ID J:109070)
- mutants that survive the postnatal period have a dome-shaped head
- cardiovascular system phenotype
- abnormal blood vessel morphology (MGI Ref ID J:109070)
- dilated blood vessels in the enlarged forebrain
- hemorrhage (MGI Ref ID J:109070)
- mutants that survive the postnatal period have brains that display surface bleeding
- behavior/neurological phenotype
- weakness (MGI Ref ID J:109070)
- mutants that survive the postnatal period show limb weakness and immobility
- skeleton phenotype
- domed skull (MGI Ref ID J:109070)
- mutants that survive the postnatal period have a dome-shaped head
This mouse can be used to support research in many areas including:
Cell Biology Research
Signal Transduction
Developmental Biology Research
Craniofacial and Palate Defects
Internal/Organ Defects
brain
Neurobiology Research
lacZ expression in neural tissue
Research Tools
lacZ Expression
Genetics Research
Tissue/Cell Markers
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Cdontm2Rsk | ||
|---|---|---|---|
| Allele Name | targeted mutation 2, Robert S Krauss | ||
| Allele Type | Targeted (Reporter) | ||
| Common Name(s) | CdonlacZ-2; | ||
| Mutation Made By | Robert Krauss, Mount Sinai School of Medicine | ||
| Strain of Origin | 129/Sv | ||
| Gene Symbol and Name | Cdon, cell adhesion molecule-related/down-regulated by oncogenes | ||
| Chromosome | 9 | ||
| Gene Common Name(s) | CAM-related/down-regulated by oncogenes; CDO; MGC111524; ORCAM; | ||
| Molecular Note | An IRES-lacZ-neo cassette was inserted at the 3' terminus of exon 3. Endogenous protein was undetected by Western blot analysis of homozygous mutant mice. Beta-galactosidase activity was detected by staining. [MGI Ref ID J:82221] | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Selected Reference(s)
Cole F; Krauss RS. 2003. Microform Holoprosencephaly in Mice that Lack the Ig Superfamily Member Cdon. Curr Biol 13(5):411-5. [PubMed: 12620190] [MGI Ref ID J:82221]
Tenzen T; Allen BL; Cole F; Kang JS; Krauss RS; McMahon AP. 2006. The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice. Dev Cell 10(5):647-56. [PubMed: 16647304] [MGI Ref ID J:108747]
Zhang W; Kang JS; Cole F; Yi MJ; Krauss RS. 2006. Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly. Dev Cell 10(5):657-65. [PubMed: 16647303] [MGI Ref ID J:108746]
Additional References
Cdontm2Rsk relatedAllen BL; Tenzen T; McMahon AP. 2007. The Hedgehog-binding proteins Gas1 and Cdo cooperate to positively regulate Shh signaling during mouse development. Genes Dev 21(10):1244-57. [PubMed: 17504941] [MGI Ref ID J:121553]
Cole F; Zhang W; Geyra A; Kang JS; Krauss RS. 2004. Positive regulation of myogenic bHLH factors and skeletal muscle development by the cell surface receptor CDO. Dev Cell 7(6):843-54. [PubMed: 15572127] [MGI Ref ID J:95029]
Zhang W; Yi MJ; Chen X; Cole F; Krauss RS; Kang JS. 2006. Cortical thinning and hydrocephalus in mice lacking the immunoglobulin superfamily member CDO. Mol Cell Biol 26(10):3764-72. [PubMed: 16648472] [MGI Ref ID J:109070]
Health & husbandry
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Health & Colony Maintenance Information
Colony Maintenance
Breeding & Husbandry When maintaining a live colony of CdonlacZ-2 on the 129/Sv genetic background, the donating investigator breeds heterozygous mice together.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 002448 129S1/SvImJ | (approximate) | |
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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See Terms of Use tab for General Terms and Conditions
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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.Ordering and Purchasing Information
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