Dab1<scm> Spontaneous Allele Detail MGI Mouse (MGI:1856801)

Dab1^scm
Spontaneous Allele Detail

Nomenclature

Symbol:	Dab1^scm
Name:	disabled homolog 1 (Drosophila); scrambler
MGI ID:	MGI:1856801
Synonyms:	scm
Gene:	Dab1 Location: Chr4:103291964-104417449 bp, + strand Genetic Position: Chr4, 52.7 cM

Cerebellum size is reduced in Dab1^scm/Dab1^scm mice

Show the 4 image(s) involving this allele.

Mutation
origin

Strain of Origin:

DC/LeJ

Mutation
description

Allele Type:	Spontaneous
Mutation:	Transposon insertion
	Transcripts produced from this allele show abnormal splicing and are predicted to produce a truncated protein. Sequence analysis revealed that the larger scrambler transcript contains 1.5 kb of intracisternal A particle retrotransposon (IAP) sequence in antisense orientation. Previous mapping studies detcted an IAP particle that failed to recombine with the Dab1 locus. Thus, it appears that abberrant splicing has incorporated the IAP element in the coding region of the gene. (J:42628, J:43504)
Inheritance:	Recessive

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 Dab1 Mutation:	6 strains or lines available

Expression

In Mice Carrying this Mutation:

5 assay results

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
behavior/neurological			√
tremors			√
abnormal motor coordination/ balance			√
abnormal gait			√
		hm1	hm2
growth/size			√
decreased body size			√
		hm1	hm2
lethality/postnatal			√
postnatal lethality			√
		hm1	hm2
life span/aging			√
decreased survivor rate			√
		hm1	hm2
nervous system		√	√
abnormal retinal rod bipolar cell morphology		√
abnormal cerebellar foliation			√
abnormal hippocampus morphology			√
abnormal dentate gyrus morphology			√
abnormal pyramidal neuron morphology			√
abnormal cerebral cortex morphology			√
abnormal stratification in cerebral cortex			√
abnormal cerebellar Purkinje cell layer			√
small cerebellum			√
		hm1	hm2
reproductive system			√
male infertility			√
		hm1	hm2
vision/eye		√
abnormal retinal rod bipolar cell morphology		√
abnormal retinal inner nuclear layer morphology		√
abnormal cone electrophysiology		√
abnormal rod electrophysiology		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Dab1^scm/Dab1^scm	involves: C3H * C57BL/6J
nervous system abnormal retinal rod bipolar cell morphology (J:71970) density of cells is decreased, indicating a decreased number of rod bipolar cells compared to controls vision/eye abnormal retinal rod bipolar cell morphology (J:71970) density of cells is decreased, indicating a decreased number of rod bipolar cells compared to controls abnormal retinal inner nuclear layer morphology (J:71970) density of synaptic terminals is decreased compared to controls abnormal cone electrophysiology (J:71970) cone mediated-responses are reduced in amplitude and delayed in mutants; difference compared to wild-type cone function is not as great as differences in rod function abnormal rod electrophysiology (J:71970) amplitude of a-wave of ERG in response to bright light flash is smaller than in controls while the b-wave is significantly reduced oscillatory potentials (OPs) are reduced in amplitude
Genotype	Allelic Composition	Genetic Background
hm2	Dab1^scm/Dab1^scm	involves: C3HeB/FeJ * DC/Le
Cerebellum size is reduced in Dab1^scm/Dab1^scm mice growth/size decreased body size (J:37166) size difference begins to show after 15 days of age mutant mice frequently cannot be weaned until 5-6 weeks of age; culling some normal siblings prior to weaning can assure survivability of mutant mice behavior/neurological tremors (J:37166) mice exhibit a whole-body tremor abnormal motor coordination/ balance (J:37166) phenotype is consistent throughout life abnormal gait (J:37166) reproductive system male infertility (J:37166) lethality/postnatal postnatal lethality (J:37166) unless litters are culled to reduce competition for food, a significant number of mutants die before weaning life span/aging decreased survivor rate (J:37166) mice that do survive live a normal lifespan nervous system abnormal cerebellar foliation (J:37166) this layer is not seen or reduced abnormal hippocampus morphology (J:37166) this area is severely disorganized the pyramidal cells are aligned in two or more wavy rows rather than in a single curving row abnormal dentate gyrus morphology (J:37166) neurons are randomly scattered abnormal pyramidal neuron morphology (J:37166) abnormal cerebral cortex morphology (J:37166) this area lacks its normal six layered structure large pyramidal cells and small granule cells are scattered rather than segregated into specific layers abnormal stratification in cerebral cortex (J:37166) abnormal cerebellar Purkinje cell layer (J:37166) a layer is not seen; Purkinje cells are scattered throughout the granule layer and beneath it small cerebellum (J:37166) greatly reduced in size compared with normal littermates

References

Original:	J:37166 Sweet HO et al., "Scrambler, a new neurological mutation of the mouse with abnormalities of neuronal migration." Mamm Genome 1996 Nov;7(11):798-802
All:	20 reference(s)

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