Phenotypes associated with this allele

• Allele Symbol: Pgap1^tm1Osb
• Allele Name: targeted mutation 1, Research Institute for Microbial Diseases, Osaka University
• Allele ID: MGI:6323435
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pgap1^tm1Osb/Pgap1^tm1Osb	involves: 129S2/SvPas	MGI:6361210

Genotype
MGI:6361210

hm1

• Allelic Composition: Pgap1^tm1Osb/Pgap1^tm1Osb
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:126766 )

• fewer than the expected number of mice are seen, with 31 of 26 pups dying right after delivery or within 24 hours of birth

• mice that survive the first 24 hours after birth are able to survive like controls

cellular

impaired sperm migration in female genital tract ( J:126766 )

♂ • sperm migration assays indicate that mutant sperm cannot ascend from the uterus into the oviduct

♂ • however, spermatozoa are normal in number, motility and ability to ascend the uterus

growth/size/body

abnormal face shape ( J:126766 )

• more than 50% of pups show severely disturbed face shaping

absent nasal cavity ( J:126766 )

• in severely affected mutants

absent paranasal sinus ( J:126766 )

• severely affected mutants exhibit no nasal sinus

otocephaly ( J:126766 )

• more than 50% of pups show severely disturbed face and jaw shaping similar to otocephaly

• otocephaly varies from a normal face to a complete lack of mouth and jaw

abnormal head development ( J:126766 )

• most embryos lack the rostral part of the head

postnatal growth retardation ( J:126766 )

• surviving mice show growth retardation

• however, surviving mice show no differences in general appearance, posture, neurological reflexes, gait, spontaneous behaviors, eyesight or olfaction from wild-type mice

craniofacial

small mandible ( J:126766 )

absent maxilla ( J:126766 )

• severely affected mutants exhibit no maxillary bone

abnormal face shape ( J:126766 )

• more than 50% of pups show severely disturbed face shaping

absent nasal cavity ( J:126766 )

• in severely affected mutants

absent paranasal sinus ( J:126766 )

• severely affected mutants exhibit no nasal sinus

otocephaly ( J:126766 )

• more than 50% of pups show severely disturbed face and jaw shaping similar to otocephaly

• otocephaly varies from a normal face to a complete lack of mouth and jaw

behavior/neurological

absent gastric milk in neonates ( J:126766 )

• mutants with normal faces are active after birth but milk is not seen in stomachs upon death

nervous system

abnormal brain morphology ( J:126766 )

• brains of most mutants are degenerated

abnormal telencephalon development ( J:126766 )

• formation of the telencephalon is seen but the layer structure is immature

abnormal cerebral cortex morphology ( J:126766 )

• the density and number of cells in the most superficial layer of the cerebral cortex is lower indicating an immature structure

absent olfactory bulb ( J:126766 )

• in severely affected mutants

reproductive system

impaired sperm migration in female genital tract ( J:126766 )

♂ • sperm migration assays indicate that mutant sperm cannot ascend from the uterus into the oviduct

♂ • however, spermatozoa are normal in number, motility and ability to ascend the uterus

male infertility ( J:126766 )

♂ • no males sire a pup when mated to wild-type females despite the presence of vaginal plugs, indicating male infertility

impaired fertilization ( J:126766 )

♂ • in vitro fertilization rate is 2.7% compared to 51.3% for wild-type sperm

impaired binding of sperm to zona pellucida ( J:126766 )

♂ • mutant sperm show poor binding to the zona pellucida

respiratory system

absent nasal cavity ( J:126766 )

• in severely affected mutants

absent paranasal sinus ( J:126766 )

• severely affected mutants exhibit no nasal sinus

skeleton

small mandible ( J:126766 )

absent maxilla ( J:126766 )

• severely affected mutants exhibit no maxillary bone