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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Airetm1Mmat
targeted mutation 1, Mitsuru Matsumoto
MGI:3573749
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Airetm1Mmat/Airetm1Mmat B6.Cg-Airetm1Mmat MGI:3576483
hm2
 		Airetm1Mmat/Airetm1Mmat C.Cg-Airetm1Mmat MGI:3576481
hm3
 		Airetm1Mmat/Airetm1Mmat involves: C57BL/6 * CBA MGI:3576479
ht4
 		Airetm1Mmat/Airetm2Mmat involves: C57BL/6 * CBA MGI:3818935
cx5
 		Airetm1Mmat/Airetm2Mmat
Tg(TcraTcrb)425Cbn/? 		involves: BALB/c * C57BL/6 * CBA MGI:3818937


Genotype
MGI:3576483
hm1
Allelic
Composition		 Airetm1Mmat/Airetm1Mmat
Genetic
Background		 B6.Cg-Airetm1Mmat
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1Mmat mutation (1 available); any Aire mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
salivary gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the salivary glands
autoimmune response ( J:96580 )
• exhibited similar autoimmune phenotypes as seen in the mixed C57BL/6 and CBA background

endocrine/exocrine glands
salivary gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the salivary glands

digestive/alimentary system
salivary gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the salivary glands

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
autoimmune polyendocrine syndrome type 1 DOID:0050167 OMIM:240300
 J:96580




Genotype
MGI:3576481
hm2
Allelic
Composition		 Airetm1Mmat/Airetm1Mmat
Genetic
Background		 C.Cg-Airetm1Mmat
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1Mmat mutation (1 available); any Aire mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
increased autoantibody level ( J:96580 )
• exhibited similar autoimmune phenotypes as seen in the mixed C57BL/6 and CBA background
• Background Sensitivity: demonstrated strong auto-antibodies against gastric mucosa

digestive/alimentary system
abnormal stomach mucosa morphology ( J:96580 )
• Background Sensitivity: lymphoid cell infiltration in the gastric mucosa

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
autoimmune polyendocrine syndrome type 1 DOID:0050167 OMIM:240300
 J:96580




Genotype
MGI:3576479
hm3
Allelic
Composition		 Airetm1Mmat/Airetm1Mmat
Genetic
Background		 involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1Mmat mutation (1 available); any Aire mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
parotid gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the parotid glands
submandibular gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the submandibular glands
stomach inflammation ( J:96580 )
• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas
lacrimal gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the lacrimal glands
pancreas inflammation ( J:96580 )
• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas
autoimmune response ( J:96580 )
• developed autoimmunity against the defined target antigen, spectrin alpha 2 (alpha-fodrin), a ubiquitously expressed actin binding protein

endocrine/exocrine glands
endocrine/exocrine gland phenotype ( J:96580 )
N
• developed Sjogren's syndrome-like pathologic changes in the exocrine organs
parotid gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the parotid glands
submandibular gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the submandibular glands
lacrimal gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the lacrimal glands
pancreas inflammation ( J:96580 )
• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas

vision/eye
lacrimal gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the lacrimal glands
decreased tear production ( J:96580 )
• secretion of tears per unit of mouse body weight was decreased

reproductive system
reduced fertility ( J:96580 )
• homozygous crossings produced offspring only occasionally

digestive/alimentary system
parotid gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the parotid glands
submandibular gland inflammation ( J:96580 )
• infiltration of many lymphoid cells in the submandibular glands
stomach inflammation ( J:96580 )
• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas




Genotype
MGI:3818935
ht4
Allelic
Composition		 Airetm1Mmat/Airetm2Mmat
Genetic
Background		 involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1Mmat mutation (1 available); any Aire mutation (52 available)
Airetm2Mmat mutation (2 available); any Aire mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat

immune system
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat
autoimmune response ( J:141379 )
• display autoimmune pathology with onset at 4 to 6 weeks of age

endocrine/exocrine glands
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat




Genotype
MGI:3818937
cx5
Allelic
Composition		 Airetm1Mmat/Airetm2Mmat
Tg(TcraTcrb)425Cbn/?
Genetic
Background		 involves: BALB/c * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1Mmat mutation (1 available); any Aire mutation (52 available)
Airetm2Mmat mutation (2 available); any Aire mutation (52 available)
Tg(TcraTcrb)425Cbn mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:141379 )
N
• autoimmune pathology is absent unlike in mice not carrying Tg(TcraTcrb)425Cbn
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat

hematopoietic system
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat

endocrine/exocrine glands
abnormal thymus morphology ( J:141379 )
• GFP expressing cells are less complex in shape compared to GFP expressing cells in mice with one wild type allele
• distribution of GFP expressing cells is altered similar to mice homozygous for Airetm2Mmat




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory