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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Atxn1ltm2.1Hzo
targeted mutation 2.1, Huda Y Zoghbi
MGI:5301616
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo B6.129S7-Atxn1ltm2.1Hzo MGI:5301621
hm2
 		Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo involves: 129S7/SvEvBrd * C57BL/6J MGI:5301620
ht3
 		Atxn1ltm2.1Hzo/Atxn1l+ B6.129S7-Atxn1ltm2.1Hzo MGI:5301623
cx4
 		Atxn1tm1Hzo/Atxn1tm1Hzo
Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo 		involves: 129S7/SvEvBrd * C57BL/6J MGI:5301617
cx5
 		Atxn1tm1Hzo/Atxn1+
Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo 		involves: 129S7/SvEvBrd * C57BL/6J MGI:5301618
cx6
 		Atxn1tm1Hzo/Atxn1tm1Hzo
Atxn1ltm2.1Hzo/Atxn1l+ 		involves: 129S7/SvEvBrd * C57BL/6J MGI:5301619


Genotype
MGI:5301621
hm1
Allelic
Composition		 Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic
Background		 B6.129S7-Atxn1ltm2.1Hzo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1ltm2.1Hzo mutation (1 available); any Atxn1l mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, incomplete penetrance ( J:178303 )
• about 50% of mice die before P21

nervous system
hydrocephaly ( J:178303 )
• about 30% of surviving mice develop hydrocephalus

behavior/neurological
lethargy ( J:178303 )
• develops in symptomatic mice between 1 and 4 weeks of age

growth/size/body
decreased body size ( J:178303 )
cachexia ( J:178303 )
• emaciation develops in symptomatic mice between 1 and 4 weeks of age

skeleton
domed cranium ( J:178303 )
• develops in symptomatic mice between 1 and 4 weeks of age
kyphosis ( J:178303 )
• develops in symptomatic mice between 1 and 4 weeks of age

craniofacial
domed cranium ( J:178303 )
• develops in symptomatic mice between 1 and 4 weeks of age




Genotype
MGI:5301620
hm2
Allelic
Composition		 Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1ltm2.1Hzo mutation (1 available); any Atxn1l mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:178303 )
• less than 20% of pups die within 3 h of birth

homeostasis/metabolism
cyanosis ( J:178303 )
• less than 20% of pups of cyanotic and die within 3 h of birth

respiratory system
abnormal pulmonary alveolar sac morphology ( J:178303 )
• air space enlargement in 65% of mice at the late alveolar stage (P17-P23)
abnormal pulmonary alveolus morphology ( J:178303 )
• decrease in the area occupied by elastic fibrils within the alveolar walls in symptomatic mice at 7 to 9 months of age

growth/size/body
omphalocele ( J:178303 )
• in 1 of 24 embryos

nervous system
enlarged lateral ventricles ( J:178303 )
• at birth in 1 of 9 pups
enlarged third ventricle ( J:178303 )
• at birth in 1 of 9 pups




Genotype
MGI:5301623
ht3
Allelic
Composition		 Atxn1ltm2.1Hzo/Atxn1l+
Genetic
Background		 B6.129S7-Atxn1ltm2.1Hzo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1ltm2.1Hzo mutation (1 available); any Atxn1l mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
hydrocephaly ( J:178303 )
• develop hydrocephalus at a very low frequency (less than 1%)




Genotype
MGI:5301617
cx4
Allelic
Composition		 Atxn1tm1Hzo/Atxn1tm1Hzo
Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1ltm2.1Hzo mutation (1 available); any Atxn1l mutation (24 available)
Atxn1tm1Hzo mutation (1 available); any Atxn1 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:178303 )
• about 73% of pups die within 3 h of birth
postnatal lethality, complete penetrance ( J:178303 )
• all die before weaning

homeostasis/metabolism
cyanosis ( J:178303 )
• about 73% of pups of cyanotic and die within 3 h of birth

growth/size/body
omphalocele ( J:178303 )
• in about 45% of embryos

nervous system
enlarged lateral ventricles ( J:178303 )
• at birth in most pups
enlarged third ventricle ( J:178303 )
• at birth in most pups




Genotype
MGI:5301618
cx5
Allelic
Composition		 Atxn1tm1Hzo/Atxn1+
Atxn1ltm2.1Hzo/Atxn1ltm2.1Hzo
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1ltm2.1Hzo mutation (1 available); any Atxn1l mutation (24 available)
Atxn1tm1Hzo mutation (1 available); any Atxn1 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:178303 )
• less than 20% of pups die within 3 h of birth

homeostasis/metabolism
cyanosis ( J:178303 )
• less than 20% of pups of cyanotic and die within 3 h of birth

respiratory system
abnormal pulmonary alveolar sac morphology ( J:178303 )
• air space enlargement is more severe than in mice homozygous for the Atxn1l mutation alone

growth/size/body
omphalocele ( J:178303 )
• in some embryos

nervous system
enlarged lateral ventricles ( J:178303 )
• at birth in 3 of 10 pups
enlarged third ventricle ( J:178303 )
• at birth in 3 of 10 pups




Genotype
MGI:5301619
cx6
Allelic
Composition		 Atxn1tm1Hzo/Atxn1tm1Hzo
Atxn1ltm2.1Hzo/Atxn1l+
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1ltm2.1Hzo mutation (1 available); any Atxn1l mutation (24 available)
Atxn1tm1Hzo mutation (1 available); any Atxn1 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:178303 )
• less than 20% of pups die within 3 h of birth

homeostasis/metabolism
cyanosis ( J:178303 )
• less than 20% of pups of cyanotic and die within 3 h of birth

growth/size/body
omphalocele ( J:178303 )
• in a few embryos




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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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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory