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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Aaastm1Ahue
targeted mutation 1, Angela Huebner
MGI:3621812
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Aaastm1Ahue/Aaastm1Ahue involves: 129P2/OlaHsd * C57BL/6 MGI:3622153


Genotype
MGI:3622153
hm1
Allelic
Composition
Aaastm1Ahue/Aaastm1Ahue
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aaastm1Ahue mutation (0 available); any Aaas mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• females, but not males, are infertile; however follicular development and ovulation appear to be normal

behavior/neurological
• slight decrease in exploratory behavior for males in a light-dark transition assay and females during a wire hang task; however grip strength is normal and the total number of light dark transitions is similar to wild-type
• at 10 weeks of age, males fall of a rotating rod sooner than wild-type; however no significant difference is seen at any other age or in females at the same age
• slightly less active in an open field; however, in a viewing jar and arena behavior appears normal and no abnormal reflexes are detected

growth/size/body
• decreased body weight at 8 and 10 weeks of age in female and male homozygotes, respectively

endocrine/exocrine glands
N
• histology of the adrenal gland, pituitary gland, ovary and testes appears normal

cellular
N
• nuclear pore complex structure and function in the liver, kidney and MEFs appears normal

homeostasis/metabolism
N
• plasma levels of adrenocorticotropic hormone and corticosterone are similar to wild-type

nervous system
N
• peripheral nerve histology appears normal

digestive/alimentary system
N
• histology of the esophagus appears normal

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Achalasia-Addisonianism-Alacrima Syndrome; AAAS 231550 J:106908





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory