Astn1^tm1Hatn
Targeted Allele Detail

Summary

• Symbol: Astn1^tm1Hatn
• Name: astrotactin 1; targeted mutation 1, Mary E Hatten
• MGI ID: MGI:2445955
• Gene: Astn1 Location: Chr1:158189843-158519351 bp, + strand Genetic Position: Chr1, 68.35 cM, cytoband H1
• Alliance: Astn1^tm1Hatn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:74969
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The 168 bp exon containing the translational start codon was replaced with a neomycin selection cassette inserted by homologous recombination. No protein was detected by Western blot analysis of homozygous mutant mice. (J:74969)

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)
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hm1	Astn1^tm1Hatn/Astn1^tm1Hatn	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Phenotypes:

Affected Systems	hm1
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behavior/neurological	√
impaired coordination	√
cellular	√
increased neuron apoptosis	√
abnormal cerebellar granule cell migration	√
nervous system	√
increased neuron apoptosis	√
abnormal cerebellar granule cell migration	√
abnormal cerebellum morphology	√
abnormal cerebellum external granule cell layer morphology	√
abnormal cerebellar Purkinje cell layer	√
abnormal cerebellar granule cell morphology	√
ectopic cerebellar granule cells	√
thin cerebellar granule layer	√
small cerebellum	√

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

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Astn1 Mutation: 85 strains or lines available

References

• Original: J:74969 Adams NC, et al., Mice that lack astrotactin have slowed neuronal migration. Development. 2002 Feb;129(4):965-72
• All: 1 reference(s)