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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Phactr4humdy
humpty dumpty
MGI:3720740
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Phactr4humdy/Phactr4humdy C.B6-Phactr4humdy MGI:3721226
hm2
Phactr4humdy/Phactr4humdy involves: C3H/HeJ * C57BL/6J MGI:3721244
ht3
Phactr4Gt(RRA075)Byg/Phactr4humdy involves: 129P2/OlaHsd * C57BL/6J MGI:3721225
cx4
E2f1tm1Meg/E2f1+
Phactr4humdy/Phactr4humdy
involves: 129S4/SvJae * C57BL/6J MGI:3721228
cx5
E2f1tm1Meg/E2f1tm1Meg
Phactr4humdy/Phactr4humdy
involves: 129S4/SvJae * C57BL/6J MGI:3721227


Genotype
MGI:3721226
hm1
Allelic
Composition
Phactr4humdy/Phactr4humdy
Genetic
Background
C.B6-Phactr4humdy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phactr4humdy mutation (1 available); any Phactr4 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the few surviving mice are born and die shortly thereafter

nervous system
• at E9.5, cell proliferation in the neural tube is increased ventrally
• at E10.5, cell proliferation is increased relative to in wild-type mice ventrally and dorsally
• there is a greater than 2-fold increase in the ratio of proliferating neural progenitors to differentiated cells in the neural tubethere is a greater than 2-fold increase in the ratio of proliferating neural progenitors to differentiated cells in the neural tube
• at E9.25, pups possess neural tubes that have failed to close
• in 15% of pups
• 15% of pups exhibit severe exencephaly accompanied by a wavy neural tube and a shortened anterior to posterior axis
• after E10.5, surviving pups exhibit complete exencephaly from the forebrain to the hindbrainafter E10.5, surviving pups exhibit complete exencephaly from the forebrain to the hindbrain

vision/eye
• at E12.5 and E16.5
• at E 12.5 and E14.5, proliferation in the retina is increased while differentiation in decreased
• pups exhibit an outgrowth in the retinal epithelium
• pups exhibit an outgrowth in the neural retina

cellular
• the cell cycle length is decreased and there are defects in entering and exiting the cell cycle

embryo
• 15% of pups are shortened in the anterior to posterior direction
• at E9.5, cell proliferation in the neural tube is increased ventrally
• at E10.5, cell proliferation is increased relative to in wild-type mice ventrally and dorsally
• there is a greater than 2-fold increase in the ratio of proliferating neural progenitors to differentiated cells in the neural tubethere is a greater than 2-fold increase in the ratio of proliferating neural progenitors to differentiated cells in the neural tube
• at E9.25, pups possess neural tubes that have failed to close
• in 15% of pups

pigmentation
• pups exhibit an outgrowth in the retinal epithelium




Genotype
MGI:3721244
hm2
Allelic
Composition
Phactr4humdy/Phactr4humdy
Genetic
Background
involves: C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phactr4humdy mutation (1 available); any Phactr4 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E11.5




Genotype
MGI:3721225
ht3
Allelic
Composition
Phactr4Gt(RRA075)Byg/Phactr4humdy
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phactr4Gt(RRA075)Byg mutation (0 available); any Phactr4 mutation (61 available)
Phactr4humdy mutation (1 available); any Phactr4 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• pups display exencephaly




Genotype
MGI:3721228
cx4
Allelic
Composition
E2f1tm1Meg/E2f1+
Phactr4humdy/Phactr4humdy
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1tm1Meg mutation (2 available); any E2f1 mutation (25 available)
Phactr4humdy mutation (1 available); any Phactr4 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• only 6 of 13 mice display partial exencephaly indicating a rescue of the Phactr4humdy phenotype

vision/eye
N
• mice do not display coloboma




Genotype
MGI:3721227
cx5
Allelic
Composition
E2f1tm1Meg/E2f1tm1Meg
Phactr4humdy/Phactr4humdy
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1tm1Meg mutation (2 available); any E2f1 mutation (25 available)
Phactr4humdy mutation (1 available); any Phactr4 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• only 2 of 5 mice display partial exencephaly with recovery of normal proliferation and differentiation in the neural tube indicating a rescue of the Phactr4humdy phenotype

vision/eye
N
• mice do not display coloboma





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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory