Scrib^Crc
Spontaneous Allele Detail

Summary

• Symbol: Scrib^Crc
• Name: scribbled planar cell polarity; circletail
• MGI ID: MGI:1889322
• Synonyms: Crc
• Gene: Scrib Location: Chr15:75919011-75941633 bp, - strand Genetic Position: Chr15, 35.29 cM
• Alliance: Scrib^Crc page

Mutation origin

• Strain of Origin: (NMRI x C57BL/6J)F2

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Insertion
• Mutation details: 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. Western blot analysis indicates complete absence of the full-length protein in homozygotes and no evidence for a truncated, 100-120 kDa isoform is detected. (J:81365, J:216413)
• Inheritance: Semidominant

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Scrib^Crc/Scrib^Crc	C3H.Cg-Scrib^Crc
hm2	Scrib^Crc/Scrib^Crc	involves: BALB/c * C57BL/6 * CBA/CaJ * NMRI
hm3	Scrib^Crc/Scrib^Crc	involves: BALB/c * C57BL/6 * NMRI
hm4	Scrib^Crc/Scrib^Crc	involves: C3H/HeH * C57BL/6 * C57BL/6J * NMRI
hm5	Scrib^Crc/Scrib^Crc	involves: C57BL/6J * NMRI
ht6	Scrib^Crc/Scrib^+	C3H.Cg-Scrib^Crc
ht7	Scrib^Crc/Scrib^+	involves: BALB/c * C57BL/6 * NMRI
ht8	Scrib^Crc/Scrib^+	involves: C57BL/6J * NMRI
cx9  Disease Model	Celsr1^Crsh/Celsr1^+ Scrib^Crc/Scrib^+	C3H.Cg-Scrib^Crc Celsr1^Crsh
cx10  Disease Model	Celsr1^Scy/Celsr1^+ Scrib^Crc/Scrib^+	C3H.Cg-Scrib^Crc Celsr1^Scy
cx11  Disease Model	Scrib^Crc/Scrib^+ Vangl2^Lp/Vangl2^+	C3H.Cg-Vangl2^Lp Scrib^Crc
cx12	Celsr1^Crsh/Celsr1^+ Scrib^Crc/Scrib^+ Vangl2^Lp/Vangl2^+	C3H.Cg-Vangl2^Lp Scrib^Crc Celsr1^Crsh
cx13	Celsr1^Crsh/Celsr1^+ Scrib^Crc/Scrib^+	involves: 101/H * BALB/c * C3H/HeH * C57BL/6 * NMRI
cx14	Scrib^Crc/Scrib^+ Vangl2^+/Vangl2^Lp	involves: BALB/c * C57BL/6 * CBA/Ca * LPT/LeJ * NMRI * SWR
cx15	Gli3^TgBR/Gli3^+ Scrib^Crc/Scrib^Crc	involves: C57BL/6J * NMRI

Phenotypes:

Affected Systems	hm1	hm2	hm3	hm4	hm5	ht6	ht7	ht8	cx9	cx10	cx11	cx12	cx13	cx14	cx15
show or hide all annotated terms
embryo	√	√	√	√	√				√	√	√	√	√	√
abnormal developmental patterning									√		√
delayed embryo turning			√		√
decreased embryo size			√
decreased embryo weight			√
open neural tube	√
spina bifida									√					√
craniorachischisis	√	√	√	√	√				√	√	√	√	√	√
growth/size/body			√		√				√	√	√
decreased embryo size			√
decreased embryo weight			√
abnormal abdominal wall morphology									√	√	√
herniated abdominal wall			√		√
decreased fetal size					√
limbs/digits/tail							√	√	√		√	√		√
abnormal tail morphology												√
curly tail							√	√	√		√			√
kinked tail							√
mortality/aging			√		√						√
perinatal lethality, complete penetrance			√		√
prenatal lethality, incomplete penetrance											√
nervous system	√	√	√	√	√	N			√	√	√	√	√	√	√
nervous system phenotype						N
open neural tube	√
spina bifida									√					√
craniorachischisis	√	√	√	√	√				√	√	√	√	√	√
abnormal forebrain development			√
abnormal lateral ventricle morphology			√
absent third ventricle			√
abnormal innervation															√
abnormal optic nerve innervation			√
exencephaly									√		√	√
abnormal optic chiasm morphology			√
encephalomeningocele			√
vision/eye			√						√	√	√
abnormal optic nerve innervation			√
abnormal optic chiasm morphology			√
microphthalmia			√
abnormal eyelid morphology									√	√	√
abnormal eyelid development									√
absent eyelids			√
abnormal retina morphology			√
abnormal retina ganglion layer morphology			√
increased total retina thickness			√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cx9	cx10	cx11
neural tube defect IDs neural tube defect       DOID:0080074 OMIM:301410 OMIM:601634 Close	√	√	√

Expression

In Mice Carrying this Mutation:	59 assay results
In Structures Affected by this Mutation:	9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Scrib Mutation: 54 strains or lines available

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: 21 reference(s)