Scrib<Crc> Spontaneous Allele Detail MGI Mouse (MGI:1889322)

Scrib^Crc
Spontaneous Allele Detail

Nomenclature

Symbol:	Scrib^Crc
Name:	scribbled homolog (Drosophila); circletail
MGI ID:	MGI:1889322
Synonyms:	Crc
Gene:	Scrib Location: Chr15:75877588-75900214 bp, - strand Genetic Position: Chr15, 43.8 cM

Mutation
origin

Strain of Origin:

(NMRI x C57BL/6J)F2

Mutation
description

Allele Type:	Spontaneous
Mutation:	Insertion
	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. (J:81365)
Inheritance:	Semidominant

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 Scrib Mutation:	5 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	hm2	ht3	cx4
digestive/alimentary system			√
abnormal stomach morphology			√
		hm1	hm2	ht3	cx4
embryogenesis		√	√		√
craniorachischisis		√	√		√
delayed embryo turning			√
decreased embryo size			√
decreased embryo weight			√
spina bifida					√
		hm1	hm2	ht3	cx4
growth/size			√
decreased embryo size			√
decreased embryo weight			√
		hm1	hm2	ht3	cx4
lethality/prenatal-perinatal			√
perinatal lethality			√
		hm1	hm2	ht3	cx4
limbs/digits/tail				√	√
curly tail				√	√
kinked tail				√
		hm1	hm2	ht3	cx4
nervous system		√	√		√
craniorachischisis		√	√		√
abnormal forebrain development			√
abnormal optic chiasm morphology			√
abnormal optic nerve innervation			√
spina bifida					√
		hm1	hm2	ht3	cx4
vision/eye			√
abnormal optic chiasm morphology			√
abnormal optic nerve innervation			√
microphthalmia			√
absent eyelids			√
abnormal retina morphology			√
abnormal retinal ganglion layer morphology			√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Scrib^Crc/Scrib^Crc	involves: BALB/c * C57BL/6 * CBA/CaJ * NMRI
nervous system craniorachischisis (J:72608) embryogenesis craniorachischisis (J:72608)
Genotype	Allelic Composition	Genetic Background
hm2	Scrib^Crc/Scrib^Crc	involves: BALB/c * C57BL/6 * NMRI
lethality/prenatal-perinatal perinatal lethality (J:62635) homozygotes die at birth nervous system craniorachischisis (J:62635) by E9, neural tube fails to close along its rostrocaudal length from midbrain to tail skin excision bordering neural tube is prominent abnormal forebrain development (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 chiasm morphology (J:62635) optic chiasm tends to form more caudal to anterior commissure abnormal optic nerve innervation (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 embryogenesis delayed embryo turning (J:62635) several day delay with a severe rightward kink of the body axis that lessens after turning decreased embryo size (J:62635) smaller in size than normal littermates decreased embryo weight (J:62635) lower in weight than normal littermates craniorachischisis (J:62635) by E9, neural tube fails to close along its rostrocaudal length from midbrain to tail skin excision bordering neural tube is prominent vision/eye abnormal optic chiasm morphology (J:62635) optic chiasm tends to form more caudal to anterior commissure abnormal optic nerve innervation (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 microphthalmia (J:62635) observed at E15 absent eyelids (J:62635) eyelids do not form abnormal retina morphology (J:62635) thickened neural retina and shrunken vitreous region abnormal retinal ganglion layer morphology (J:62635) disorganized distribution of retinal ganglion cells ganglion cell nuclei are smaller than wild-type at E15 digestive/alimentary system abnormal stomach morphology (J:62635) gastroschisis or externalization of abdominal contents observed in all embryos with craniorachischisis growth/size decreased embryo size (J:62635) smaller in size than normal littermates decreased embryo weight (J:62635) lower in weight than normal littermates
Genotype	Allelic Composition	Genetic Background
ht3	Scrib^Crc/Scrib⁺	involves: BALB/c * C57BL/6 * NMRI
limbs/digits/tail curly tail (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 (J:62635) in some mice, tail defect appears as a bend or kink in middle portion defect appears 10 fold more frequently in males
Genotype	Allelic Composition	Genetic Background
cx4	Scrib^Crc/Scrib⁺ Vangl2⁺/Vangl2^Lp	involves: BALB/c * C57BL/6 * CBA/Ca * LPT/LeJ * NMRI * SWR
nervous system spina bifida (J:72608) craniorachischisis (J:72608) 29 of 54 double heterozygotes exhibit craniorachisichisis and the remainder had either spina bifida or a looped tail limbs/digits/tail curly tail (J:72608) in a small minority of double heterozygotes embryogenesis spina bifida (J:72608) craniorachischisis (J:72608) 29 of 54 double heterozygotes exhibit craniorachisichisis and the remainder had either spina bifida or a looped tail

References

Original:	J:62635 Rachel RA et al., "Retinal axon misrouting at the optic chiasm in mice with neural tube closure defects." Genesis 2000 May;27(1):32-47
All:	9 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 11/20/2009 MGI_4.31 Web browser compatibility