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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pou2f1tm1Shrp
targeted mutation 1, Phillip A Sharp
MGI:3028868
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pou2f1tm1Shrp/Pou2f1tm1Shrp involves: 129S4/SvJae * C57BL/6 MGI:3028879
cx2
 		Pou2f1tm1Shrp/Pou2f1+
Pou2f2tm1Bal/Pou2f2+ 		involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 MGI:3028898
cx3
 		Pou2f1tm1Shrp/Pou2f1tm1Shrp
Sox2tm1.1Vep/Sox2+ 		involves: 129S4/SvJae * C3H/HeN * C57BL/6 MGI:6159075
cx4
 		Pou2f1tm1Shrp/Pou2f1+
Sox2tm1.1Vep/Sox2+ 		involves: 129S4/SvJae * C3H/HeN * C57BL/6 MGI:6159076


Genotype
MGI:3028879
hm1
Allelic
Composition		 Pou2f1tm1Shrp/Pou2f1tm1Shrp
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou2f1tm1Shrp mutation (1 available); any Pou2f1 mutation (99 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:87664 )
• lethality begins at E12 and continues close to birth; no viable embryos are found at birth
embryonic lethality during organogenesis, incomplete penetrance ( J:87664 )
• Background Sensitivity: on mixed background involving 129S4/SvJae and C57BL/6, death occurs during a window spanning from approximately E12 through birth
• Background Sensitivity: embryonic lethality occurs earlier with successive backcrosses to either C57BL/6 or 129/Sv

hematopoietic system
abnormal erythropoiesis ( J:87664 )
• decrease in erythropoiesis at E12.5

embryo
decreased embryo size ( J:87664 )
• 3.6% of embryos at E13.5 are runted

growth/size/body
decreased embryo size ( J:87664 )
• 3.6% of embryos at E13.5 are runted

liver/biliary system
small liver ( J:87664 )
• subset of mutants have small fetal livers

vision/eye
vision/eye phenotype ( J:119175 )
N
• lens placode induction and subsequent lens morphogenesis appears normal, with some embryos having morphologically normal,small lens pits
small lens ( J:119175 )
• some embryos at E10.5 have small lenses

integument
pallor ( J:87664 )
• subset of embryos appear pale




Genotype
MGI:3028898
cx2
Allelic
Composition		 Pou2f1tm1Shrp/Pou2f1+
Pou2f2tm1Bal/Pou2f2+
Genetic
Background		 involves: 129S2/SvPas * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou2f1tm1Shrp mutation (1 available); any Pou2f1 mutation (99 available)
Pou2f2tm1Bal mutation (0 available); any Pou2f2 mutation (29 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:87664 )
• many transheterozygous mutants die within 24 hours of birth
postnatal lethality, incomplete penetrance ( J:87664 )
• a subset of mutants surviving birth die prior to weaning

behavior/neurological
lethargy ( J:87664 )
• surviving neonates become increasingly lethargic and runted

growth/size/body
decreased body weight ( J:87664 )
• surviving neonates have lower body weights




Genotype
MGI:6159075
cx3
Allelic
Composition		 Pou2f1tm1Shrp/Pou2f1tm1Shrp
Sox2tm1.1Vep/Sox2+
Genetic
Background		 involves: 129S4/SvJae * C3H/HeN * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou2f1tm1Shrp mutation (1 available); any Pou2f1 mutation (99 available)
Sox2tm1.1Vep mutation (0 available); any Sox2 mutation (56 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial

endocrine/exocrine glands
abnormal adenohypophysis morphology ( J:119175 )
• mice show dysmorphology of the adenohypophysis
abnormal pituitary diverticulum morphology ( J:119175 )
• dysmorphology is observed in some embryos

nervous system
abnormal adenohypophysis morphology ( J:119175 )
• mice show dysmorphology of the adenohypophysis
abnormal pituitary diverticulum morphology ( J:119175 )
• dysmorphology is observed in some embryos

respiratory system

taste/olfaction

vision/eye
abnormal lens morphology ( J:119175 )
• at E12.5, lenses are dysmorphic or absent
• peri-ocular region in severely affected animals resembles Pax6Sey homozygous mice while mildly affected mutants show a similar phenotype to Pax6Sey heterozygous mice
abnormal eye development ( J:119175 )
• ocular region is not evident at E10.5; ocular region resembles that seen in Pax6Sey
abnormal lens induction ( J:119175 )
• lens placode induction shows severe defects
microphthalmia ( J:119175 )
• embryos generally exhibit microphthalmia in one eye and anophthalmia in the other
anophthalmia ( J:119175 )
• embryos generally exhibit anophthalmia in one eye and microphthalmia in the other




Genotype
MGI:6159076
cx4
Allelic
Composition		 Pou2f1tm1Shrp/Pou2f1+
Sox2tm1.1Vep/Sox2+
Genetic
Background		 involves: 129S4/SvJae * C3H/HeN * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou2f1tm1Shrp mutation (1 available); any Pou2f1 mutation (99 available)
Sox2tm1.1Vep mutation (0 available); any Sox2 mutation (56 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal lens morphology ( J:119175 )
• lens dysmorphology due to reduced Pax6 dosage; degree of dysmorphology is not exacerbated by reduction of Sox2 dosage
• at E12.5, lenses are normal




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
11/19/2024
MGI 6.24 		The Jackson Laboratory