Phenotypes associated with this allele

• Allele Symbol: Macroh2a1^tm1Peh
• Allele Name: targeted mutation 1, John R Pehrson
• Allele ID: MGI:3522572
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Macroh2a1^tm1Peh/Macroh2a1^tm1Peh	B6.129X1-Macroh2a1^tm1Peh	MGI:3710411
cx2	Macroh2a1^tm1Peh/Macroh2a1^tm1Peh Macroh2a2^tm1.1Peh/Macroh2a2^tm1.1Peh	129S6.Cg-Macroh2a2^tm1.1Peh Macroh2a1^tm1Peh	MGI:5780833
cx3	Macroh2a1^tm1Peh/Macroh2a1^tm1Peh Macroh2a2^tm1.1Peh/Macroh2a2^tm1.1Peh	B6.129(FVB)-Macroh2a2^tm1.1Peh Macroh2a1^tm1Peh	MGI:5780829

Genotype
MGI:3710411

hm1

• Allelic Composition: Macroh2a1^tm1Peh/Macroh2a1^tm1Peh
• Genetic Background: B6.129X1-Macroh2a1^tm1Peh

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

normal phenotype

no abnormal phenotype detected ( J:121382 )

• mice develop and grow normally with no obvious defects in appearance, size or fertility

Genotype
MGI:5780833

cx2

• Allelic Composition: Macroh2a1^tm1Peh/Macroh2a1^tm1Peh; Macroh2a2^tm1.1Peh/Macroh2a2^tm1.1Peh
• Genetic Background: 129S6.Cg-Macroh2a2^tm1.1Peh Macroh2a1^tm1Peh

growth/size/body

decreased lean body mass ( J:220524 )

decreased body weight ( J:220524 )

decreased body length ( J:220524 )

• body is 9% shorter in length than controls

immune system

blepharitis ( J:220524 )

• some mice develop eyelid inflammation between 6-12 months

integument

darkened coat color ( J:220524 )

• some mice exhibit increased darkening of hair on back beginning at 6 weeks of age

pigmentation

darkened coat color ( J:220524 )

• some mice exhibit increased darkening of hair on back beginning at 6 weeks of age

reproductive system

reproductive system phenotype ( J:220524 )

N • Background Sensitivity: homozygote x homozygote matings produce normal litter sizes, in contrast to homozygote matings on the C57BL/6 background that produce few pups

vision/eye

blepharitis ( J:220524 )

• some mice develop eyelid inflammation between 6-12 months

abnormal eyelid aperture ( J:220524 )

• bilateral increase in the palpebral fissure (eyelid opening)

abnormal eyelid margin morphology ( J:220524 )

• macroblepharon

• increased length of eyelid margin

Genotype
MGI:5780829

cx3

• Allelic Composition: Macroh2a1^tm1Peh/Macroh2a1^tm1Peh; Macroh2a2^tm1.1Peh/Macroh2a2^tm1.1Peh
• Genetic Background: B6.129(FVB)-Macroh2a2^tm1.1Peh Macroh2a1^tm1Peh

mortality/aging

perinatal lethality, incomplete penetrance ( J:220524 )

• significant numbers of mice die shortly after birth

growth/size/body

decreased body weight ( J:220524 )

decreased fetal weight ( J:220524 )

• fetal size is decreased at at 17.5 and 18.5 dpc as compared to wild-type

fetal growth retardation ( J:220524 )

• growth retardation persists throughout life

reproductive system

abnormal fertility/fecundity ( J:220524 )

• homozygote x homozygote matings produce few, if any offspring, however homozygote x wild-type matings are productive

• Background Sensitivity: homozygote x homozygote matings on the 129 background produced expected litter sizes