Phenotypes associated with this allele

• Allele Symbol: H2-Ab1^bm12
• Allele Name: b haplotype mutation 12
• Allele ID: MGI:3586447
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	H2-Ab1^bm12/H2-Ab1^bm12	B6(C)-H2-Ab1^bm12/KhEgJ	MGI:3586603
hm2	H2-Ab1^bm12/H2-Ab1^bm12	NZB.B6(C)-H2-Ab1^bm12	MGI:3610949

Genotype
MGI:3586603

hm1

• Allelic Composition: H2-Ab1^bm12/H2-Ab1^bm12
• Genetic Background: B6(C)-H2-Ab1^bm12/KhEgJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

abnormal T cell physiology ( J:100123 )

• peptide-specific decrease in calcium flux, IFNG and IL10 production relative to H2^b

abnormal level of surface class II molecules ( J:100194 )

• Decreased levels of H2-Ab1 and greatly reduced levels of co-precipitating invariant chain were found in immunoprecipitations from bm12 homozygotes compared with C57BLKS controls

decreased susceptibility to autoimmune disorder ( J:100123 )

decreased susceptibility to experimental autoimmune myasthenia gravis ( J:100213 )

• resistant to experimental autoimmune myasthenia gravis induced via standard protocol in C57BL/6J

decreased susceptibility to parasitic infection ( J:48242 )

• decreased susceptibility to Leishmania donovani relative to C57BL/6

hematopoietic system

abnormal T cell physiology ( J:100123 )

• peptide-specific decrease in calcium flux, IFNG and IL10 production relative to H2^b

Genotype
MGI:3610949

hm2

• Allelic Composition: H2-Ab1^bm12/H2-Ab1^bm12
• Genetic Background: NZB.B6(C)-H2-Ab1^bm12

mortality/aging

premature death ( J:104189 )

• mean survival 7.1 months is much less than that of NZB or NZB.B6-H2^b

hematopoietic system

increased double-negative T cell number ( J:4554 )

• increased double negative splenic T cells

hemolytic anemia ( J:4554 )

• Background Sensitivity: occurs in non-congenic NZB and NZB congenic for bm12, but not C57BL/6 bearing bm12

• Background Sensitivity: high titers of anti- double stranded DNA serum antiodies, with class switching from IgM to IgG by 4 months, present in both genders but higher in females, a phenotype not found in the NZB, NZB.B6-H2^b, or B6(C)-H2-Ab1^bm12 backgrounds

increased B cell number ( J:104189 )

• increased CD5⁺ splenic B cells

increased CD4-positive, alpha-beta T cell number ( J:4554 )

• increased CD4 single positive splenic T cells

decreased CD8-positive, alpha-beta T cell number ( J:4554 )

• decreased CD8 single positive splenic T cells

abnormal immunoglobulin level ( J:104189 )

• serum IgG and IgG2a are elevated relative to B6(C)-H2-Ab1^bm12 or NZB.B6-H2^b congenic mice

immune system

increased double-negative T cell number ( J:4554 )

• increased double negative splenic T cells

increased B cell number ( J:104189 )

• increased CD5⁺ splenic B cells

increased CD4-positive, alpha-beta T cell number ( J:4554 )

• increased CD4 single positive splenic T cells

decreased CD8-positive, alpha-beta T cell number ( J:4554 )

• decreased CD8 single positive splenic T cells

abnormal immunoglobulin level ( J:104189 )

• serum IgG and IgG2a are elevated relative to B6(C)-H2-Ab1^bm12 or NZB.B6-H2^b congenic mice

abnormal level of surface class II molecules ( J:104189 )

• staining of splenotycte MHC class II by antibody 25-5-165 is decreased relative to that on NZB.B6-H2^b splenocytes

autoimmune response ( J:4554 )

• Background Sensitivity: natural thymocytotoxic autoantibodies are found in all non-congenic NZB, NZB congenic for H2-Ab1^bm12, but not C57BL/6 congenic for H2-Ab1^bm12 and only 36% of NZB congenic for H2^b

increased anti-erythrocyte antigen antibody level ( J:4554 )

• as in non-congenic NZB, but distinct from NZB congenic for H2^b, Coombs' test shows heightened anti-erythrocyte autoantibodies

increased anti-double stranded DNA antibody level ( J:104189 )

• high titers of anti- double stranded DNA serum antiodies, with class switching from IgM to IgG by 4 months, present in both genders but higher in females, a phenotype not found in the NZB, NZB.B6-H2^b, or B6(C)-H2-Ab1^bm12 backgrounds

increased anti-single stranded DNA antibody level ( J:104189 )

• high titers of anti- single strainded DNA IgG serum antibodies are found and appear earlier than in NZB background

homeostasis/metabolism

increased urine protein level ( J:104189 )

• more severe in females than males and not found in NZB or NZB.B6-H2^b

abnormal response/metabolism to endogenous compounds ( J:104189 )

• do not respond to beef or porcine insulin, both of which the parental NZB responds to while NZB.B6-H2^b congenic mice respond to beef insulin but not porcine insulin

renal/urinary system

increased urine protein level ( J:104189 )

• more severe in females than males and not found in NZB or NZB.B6-H2^b