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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Macroh2a2tm1.1Peh
targeted mutation 1.1, John R Pehrson
MGI:5565229
Summary 3 genotypes


Genotype
MGI:5780820
hm1
Allelic
Composition		 Macroh2a2tm1.1Peh/Macroh2a2tm1.1Peh
Genetic
Background		 involves: 129S4/SvJae * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Macroh2a2tm1.1Peh mutation (2 available); any Macroh2a2 mutation (19 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:220524 )
• mice do not exhibit any developmental defects or reproductive problems




Genotype
MGI:5780833
cx2
Allelic
Composition		 Macroh2a1tm1Peh/Macroh2a1tm1Peh
Macroh2a2tm1.1Peh/Macroh2a2tm1.1Peh
Genetic
Background		 129S6.Cg-Macroh2a2tm1.1Peh Macroh2a1tm1Peh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Macroh2a1tm1Peh mutation (2 available); any Macroh2a1 mutation (50 available)
Macroh2a2tm1.1Peh mutation (2 available); any Macroh2a2 mutation (19 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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		 Macroh2a1tm1Peh/Macroh2a1tm1Peh
Macroh2a2tm1.1Peh/Macroh2a2tm1.1Peh
Genetic
Background		 B6.129(FVB)-Macroh2a2tm1.1Peh Macroh2a1tm1Peh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Macroh2a1tm1Peh mutation (2 available); any Macroh2a1 mutation (50 available)
Macroh2a2tm1.1Peh mutation (2 available); any Macroh2a2 mutation (19 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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




Contributing Projects:
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
04/30/2024
MGI 6.23 		The Jackson Laboratory