Description

Strain Information

Type Congenic; Mutant Strain; Spontaneous Mutation; Mating System Heterozygote x +/+ sibling         (Female x Male) Species laboratory mouse Background Strain CBA/CaJ Donor Strain BALB/c, C57BL/6, NMRI H2 Haplotype k Generation N14+N1F2 (30-SEP-08)   Donating Investigator Dr. Rivka Rachel,   National Cancer Institute

Appearance
agouti
Related Genotype: A/A

Description
Mice homozygous for this spontaneous mutation develop severe neural tube defects and die at birth. In it's most severe form, the neural tube fails to initiate Closure 1 (craniorachischichisis). Heterozygotes, predominantly males, often exhibit a looping or kinked tail. This strain may used to research neural tube defects.

Development
This spontaneous mutation arose on a mixed NMRI, BALB/c, C57BL/6 transgenic line that had been backcrossed twice to C57BL/6. The circletail phenotype was isolated from the transgenic line and maintained by crossing circletail males with female littermates. The donating investigator maintained the strain by crossing heterozygotes to the inbred strain, CBA/CaJ The backcross generation reached N14 in 2006. The Jackson Laboratory Repository imported this strain in 2007.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Scrib^Crc/Scrib⁺

        involves: BALB/c * C57BL/6 * NMRI

• limbs/digits/tail phenotype
• curly tail (MGI Ref ID J:62635)
  • in some mice, tail defect appears as a complete looping or circling of tail
  • defect appears 10 fold more frequently in males
• kinked tail (MGI Ref ID J:62635)
  • in some mice, tail defect appears as a bend or kink in middle portion
  • defect appears 10 fold more frequently in males

Scrib^Crc/Scrib^Crc

        involves: BALB/c * C57BL/6 * NMRI

• lethality-prenatal/perinatal
• perinatal lethality (MGI Ref ID J:62635)
  • homozygotes die at birth
• nervous system phenotype
• abnormal forebrain development (MGI Ref ID J:62635)
  • outpouching of forebrain tissue
  • distortion of lateral ventricles and disappearance of third ventricle over time
  • prominent encephalocele
  • optic chiasm tends to form more caudal to anterior commissure
  • glial palisade at chiasm is wider and thicker and is interrupted by an unidentified knot of tissue
• abnormal optic nerve innervation (MGI Ref ID J:62635)
  • retinal axon projections form an H shaped optic chiasm at E15
  • retinal axons project correctly toward the dorsal thalamus, but fail to terminate
• craniorachischisis (MGI Ref ID J:62635)
  • by E9, neural tube fails to close along its rostrocaudal length from midbrain to tail
  • skin excision bordering neural tube is prominent
• embryogenesis phenotype
• delayed embryo turning (MGI Ref ID J:62635)
  • several day delay with a severe rightward kink of the body axis that lessens after turning
• reduced embryo size (MGI Ref ID J:62635)
  • smaller in size and lower in weight than normal littermates
• vision/eye phenotype
• abnormal optic nerve innervation (MGI Ref ID J:62635)
  • retinal axon projections form an H shaped optic chiasm at E15
  • retinal axons project correctly toward the dorsal thalamus, but fail to terminate
• abnormal retina morphology (MGI Ref ID J:62635)
  • thickened neural retina and shrunken vitreous region
• abnormal retinal ganglion layer morphology (MGI Ref ID J:62635)
  • disorganized distribution of retinal ganglion cells
  • ganglion cell nuclei are smaller than wild-type at E15
• absent eyelids (MGI Ref ID J:62635)
  • eyelids do not form
• microphthalmia (MGI Ref ID J:62635)
  • observed at E15
• digestive/alimentary phenotype
• abnormal stomach morphology (MGI Ref ID J:62635)
  • gastroschisis or externalization of abdominal contents observed in all embryos with craniorachischisis
• growth/size phenotype
• reduced embryo size (MGI Ref ID J:62635)
  • smaller in size and lower in weight than normal littermates

Scrib^Crc/Scrib^Crc

        involves: BALB/c * C57BL/6 * CBA/CaJ * NMRI

• nervous system phenotype
• craniorachischisis (MGI Ref ID J:72608)

Research Applications

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

Scrib^Crc related

Neurobiology Research
Neural Tube Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		ScribCrc
Allele Name		circletail
Common Name(s)		Crc;
Strain of Origin		(NMRI x C57BL/6J)F2
Gene Symbol and Name		Scrib, scribbled homolog (Drosophila)
Chromosome		15
Gene Common Name(s)		AI118201; CRIB; CRIB1; Crc; RGD1565055; SCRB1; SCRIB1; Vartul; circletail; expressed sequence AI118201; mKIAA0147;
Molecular Note		A spontaneous mouse mutant that arose in a line carrying a tyrosinase minigene; however, the circletail mutation segregated independently of the transgene. Sequence analysis demonstrated that the coding region contained a single base insertion at codon 947, nucleotide 3182-3 compared with wild-type DNA. The nucleotide insertion is unique to the mutant, and is absent from 16 other mouse strains, including the parental strains on which mutation arose and other unrelated strains. The insertion is predicted to cause a frame shift resulting in a premature termination codon and truncation of the protein to 971 amino acids. [MGI Ref ID J:81365]

Genotyping

Genotyping Information

Genotyping Protocols

Scrib^Crc, STD PCR, vers. 1
Scrib^Crc, STD PCR, vers. 2

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Murdoch JN; Henderson DJ; Doudney K; Gaston-Massuet C; Phillips HM; Paternotte C; Arkell R; Stanier P; Copp AJ. 2003. Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum Mol Genet 12(2):87-98. [PubMed: 12499390]  [MGI Ref ID J:81365]

Murdoch JN; Rachel RA; Shah S; Beermann F; Stanier P; Mason CA; Copp AJ. 2001. Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutation. Genomics 78(1/2):55-63. [PubMed: 11707073]  [MGI Ref ID J:72608]

Rachel RA; Murdoch JN; Beermann F; Copp AJ; Mason CA. 2000. Retinal axon misrouting at the optic chiasm in mice with neural tube closure defects. Genesis 27(1):32-47. [PubMed: 10862153]  [MGI Ref ID J:62635]

Rachel RA; Wellington SJ; Warburton D; Mason CA; Beermann F. 2002. A new allele of Gli3 and a new mutation, circletail (Crc), resulting from a single transgenic experiment. Genesis 33(2):55-61. [PubMed: 12112872]  [MGI Ref ID J:77245]

Additional References

Scrib^Crc related

Montcouquiol M; Rachel RA; Lanford PJ; Copeland NG; Jenkins NA; Kelley MW. 2003. Identification of Vangl2 and Scrb1 as planar polarity genes in mammals. Nature 423(6936):173-7. [PubMed: 12724779]  [MGI Ref ID J:83127]

Montcouquiol M; Sans N; Huss D; Kach J; Dickman JD; Forge A; Rachel RA; Copeland NG; Jenkins NA; Bogani D; Murdoch J; Warchol ME; Wenthold RJ; Kelley MW. 2006. Asymmetric localization of Vangl2 and Fz3 indicate novel mechanisms for planar cell polarity in mammals. J Neurosci 26(19):5265-75. [PubMed: 16687519]  [MGI Ref ID J:108647]

Phillips HM; Rhee HJ; Murdoch JN; Hildreth V; Peat JD; Anderson RH; Copp AJ; Chaudhry B; Henderson DJ. 2007. Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganization. Circ Res 101(2):137-45. [PubMed: 17556662]  [MGI Ref ID J:137807]

Ybot-Gonzalez P; Savery D; Gerrelli D; Signore M; Mitchell CE; Faux CH; Greene ND; Copp AJ. 2007. Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure. Development 134(4):789-99. [PubMed: 17229766]  [MGI Ref ID J:119920]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX12

Colony Maintenance

Breeding & Husbandry	Homozygous mice die at birth.
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Control Information

	Control
	Wild-type from the colony
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.

General Terms and Conditions

View JAX^® Mice & Services Conditions of Use.

For additional Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

The Jackson Laboratory's Genotype Promise

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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