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Arsatm1Gie
Targeted Allele Detail
Summary
Symbol: Arsatm1Gie
Name: arylsulfatase A; targeted mutation 1, Volkmar Gieselmann
MGI ID: MGI:2180363
Synonyms: As2-, ASA(-)
Gene: Arsa  Location: Chr15:89356679-89361627 bp, - strand  Genetic Position: Chr15, 44.94 cM, cytoband E
Alliance: Arsatm1Gie page
Histochemistry and ultrastructure of sulfatide storage in the brain of Arsatm1Gie/Arsatm1Gie mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:37978
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin selection cassette was inserted into exon 4, disrupting the open reading frame. Complete absence of enzyme activity was confirmed by Northern blot analysis and by the sulfatide loading assay. (J:37978)
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)
hm1  Disease Model
involves: 129P2/OlaHsd * C57BL/6J
 
involves: 129X1/SvJ * C57BL/6J
 
Phenotypes:
Affected Systems
show or hide all annotated terms Sex:
 
behavior/neurological
abnormal passive avoidance behavior
abnormal spatial learning
tremors
ataxia
impaired balance
impaired coordination
impaired swimming
abnormal gait
short stride length
hyperactivity
cellular
abnormal male germ cell morphology
oligozoospermia
teratozoospermia
coiled sperm flagellum
abnormal sperm head morphology
abnormal spermatid morphology
abnormal lysosome morphology
increased male germ cell apoptosis
endocrine/exocrine glands
abnormal testis morphology
abnormal seminiferous tubule epithelium morphology
abnormal Sertoli cell morphology
decreased testis weight
hearing/vestibular/ear
increased or absent threshold for auditory brainstem response
deafness
hematopoietic system
abnormal microglial cell morphology
homeostasis/metabolism
abnormal lipid homeostasis
immune system
abnormal microglial cell morphology
nervous system
abnormal microglial cell morphology
abnormal brain white matter morphology
abnormal brain internal capsule morphology
abnormal cerebellar molecular layer
astrocytosis
abnormal Schwann cell morphology
abnormal neuron morphology
abnormal Purkinje cell morphology
Purkinje cell degeneration
abnormal axon morphology
cochlear ganglion degeneration
abnormal vestibular ganglion morphology
abnormal myelination
demyelination
reproductive system
abnormal male germ cell morphology
increased male germ cell apoptosis
abnormal testis morphology
abnormal seminiferous tubule epithelium morphology
abnormal Sertoli cell morphology
decreased testis weight
abnormal spermatogenesis
oligozoospermia
teratozoospermia
coiled sperm flagellum
abnormal sperm head morphology
abnormal spermatid morphology
decreased Sertoli cell phagocytosis
abnormal epididymis morphology
reduced male fertility
impaired fertilization
impaired binding of sperm to zona pellucida
vision/eye
abnormal eye morphology
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
hm1
IDs
Expression
In Structures Affected by this Mutation: 11 anatomical structure(s)
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 Arsa Mutation:  21 strains or lines available
References
Original:  J:37978 Hess B, et al., Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci U S A. 1996 Dec 10;93(25):14821-6
All:  28 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory