Phenotypes associated with this allele

• Allele Symbol: Pgap1^oto
• Allele Name: otocephaly
• Allele ID: MGI:1856621
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pgap1^oto/Pgap1^oto	B6.Cg-Pgap1^oto	MGI:4355065
hm2	Pgap1^oto/Pgap1^oto	involves: STOCK In(1)1Rk/J	MGI:4355061
ht3	Pgap1^oto/Pgap1^+	involves: STOCK In(1)1Rk/J	MGI:4355066
ht4	Pgap1^oto/Pgap1^tm1Asp	involves: 129 * C57BL/6J * STOCK In(1)1Rk/J	MGI:4355062
cx5	Lhx1^tm1Bhr/Lhx1^+ Pgap1^oto/Pgap1^+	involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J	MGI:4355067
cx6	Lhx1^tm1Bhr/Lhx1^tm1Bhr Pgap1^oto/Pgap1^+	involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J	MGI:4355068
cx7	Lhx1^tm1Bhr/Lhx1^+ Pgap1^oto/Pgap1^oto	involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J	MGI:4355069

Genotype
MGI:4355065

hm1

• Allelic Composition: Pgap1^oto/Pgap1^oto
• Genetic Background: B6.Cg-Pgap1^oto

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

Forebrain defects in Pgap1^oto/Pgap1^oto, Pgap1^oto/Pgap1^tm1Asp, and Pgap1^tm1Asp/Pgap1^tm1Asp embryos

mortality/aging

decreased survivor rate ( J:151594 )

• only 0.4% of mice survive into adulthood

prenatal lethality, incomplete penetrance ( J:151594 )

nervous system

small embryonic telencephalon ( J:151594 )

vision/eye

anophthalmia ( J:151594 )

• in some mice

reproductive system

infertility ( J:151594 )

• the few mice that survive to adulthood are infertile

Genotype
MGI:4355061

hm2

• Allelic Composition: Pgap1^oto/Pgap1^oto
• Genetic Background: involves: STOCK In(1)1Rk/J

nervous system

abnormal neural tube morphology ( J:7938 )

• Background Sensitivity: penetrance of abnormalities is nearly complete on C57BL/6J but deviations from normal are subtle on SWR

• Background Sensitivity: in a highly penetrant background abnormalities can be seen after developmental stage E12

abnormal brain development ( J:7938 )

• some mice exhibit truncation anterior to the mesencephalon

abnormal forebrain morphology ( J:41878 )

• 50% of mice exhibit forebrain defects

• at E8.5, some mice exhibit reduction in the anterior forebrain

abnormal diencephalon morphology ( J:41878 )

• the preoptic area and pituitary regions are reduced or absent in severely affected mice

absent Rathke's pouch ( J:41878 )

• absent

abnormal telencephalon morphology ( J:41878 )

• the ventral telencephalon is more affected than the dorsal telencephalon

abnormal telencephalon development ( J:7938 )

• 1 of 9 mice exhibit univerntricular telencephalon

small embryonic telencephalon ( J:41878 )

• telencephalic vesicles are absent or reduced to a single vesicle

vision/eye

abnormal eye morphology ( J:41878 )

• 50% of mice exhibit eye defects that approach the midline, fuse to form a cyclopic eye, or are reduced in size or absent

cyclopia ( J:7938 , J:41878 )

• in 1 of 9 mice (J:7938)

ocular hypotelorism ( J:41878 )

microphthalmia ( J:7938 , J:41878 )

• in 3 of 9 mice (J:7938)

anophthalmia ( J:41878 )

craniofacial

abnormal cranium morphology ( J:7938 )

• Background Sensitivity: penetrance of abnormalities is nearly complete on C57BL/6J but deviations from normal are subtle on SWR

• Background Sensitivity: in a highly penetrant background abnormalities can be seen after developmental stage E12

absent mandible ( J:7938 , J:41878 )

• in some mice (J:41878)

small mandible ( J:41878 )

• mildly affected mice exhibit a reduced lower jaw and disruption of the distal midline structures

micrognathia ( J:41878 )

• reduced or absent

abnormal medial nasal prominence morphology ( J:7938 )

• some mice lack divergency of the medial nasal prominences

fused first pharyngeal arch ( J:41878 )

• at E9.5 to E10.5, the distal tips of the first branchial arch are fused unlike in wild-type mice

• the first branchial arch is fused into a single midline structure

abnormal facial morphology ( J:7938 )

• some mice lack facial features

narrow face ( J:7938 )

• 6 of 9 mice exhibit narrow faces

small forehead ( J:41878 )

• in mildly affected mice the forehead is reduced

otocephaly ( J:7938 , J:41878 )

proboscis ( J:41878 )

• in severely affected mice the head ends in a proboscis

abnormal outer ear morphology ( J:41878 )

• 50% of mice exhibit outer ear defects

respiratory system

abnormal oropharynx morphology ( J:41878 )

• absent

skeleton

abnormal cranium morphology ( J:7938 )

• Background Sensitivity: penetrance of abnormalities is nearly complete on C57BL/6J but deviations from normal are subtle on SWR

• Background Sensitivity: in a highly penetrant background abnormalities can be seen after developmental stage E12

absent mandible ( J:7938 , J:41878 )

• in some mice (J:41878)

small mandible ( J:41878 )

• mildly affected mice exhibit a reduced lower jaw and disruption of the distal midline structures

micrognathia ( J:41878 )

• reduced or absent

abnormal sternum morphology ( J:41878 )

• 17% of mice exhibit a crankshaft sternum morphology

increased rib number ( J:41878 )

• mice exhibit an ectopic rib on the 7th vertebra

vertebral transformation ( J:41878 )

• all mice exhibit some kind of transformation compared to 18% of wild-type mice

thoracic vertebral transformation ( J:41878 )

• 65% of mice exhibit a T13 to L1 transformation unlike wild-type mice

cervical vertebral transformation ( J:41878 )

• 52% of mice exhibit C7 to T1 transformation compared with 6% of wild-type mice

lumbar vertebral transformation ( J:41878 )

• 96% of mice exhibit an L6 to S1 transformation compared to 18% of wild-type mice

digestive/alimentary system

truncated foregut ( J:41878 )

• truncated

embryo

fused first pharyngeal arch ( J:41878 )

• at E9.5 to E10.5, the distal tips of the first branchial arch are fused unlike in wild-type mice

• the first branchial arch is fused into a single midline structure

abnormal neural tube morphology ( J:7938 )

• Background Sensitivity: penetrance of abnormalities is nearly complete on C57BL/6J but deviations from normal are subtle on SWR

• Background Sensitivity: in a highly penetrant background abnormalities can be seen after developmental stage E12

endocrine/exocrine glands

absent Rathke's pouch ( J:41878 )

• absent

hearing/vestibular/ear

abnormal outer ear morphology ( J:41878 )

• 50% of mice exhibit outer ear defects

absent auditory tube ( J:41878 )

• in some mice

growth/size/body

abnormal facial morphology ( J:7938 )

• some mice lack facial features

narrow face ( J:7938 )

• 6 of 9 mice exhibit narrow faces

small forehead ( J:41878 )

• in mildly affected mice the forehead is reduced

otocephaly ( J:7938 , J:41878 )

proboscis ( J:41878 )

• in severely affected mice the head ends in a proboscis

abnormal outer ear morphology ( J:41878 )

• 50% of mice exhibit outer ear defects

microcephaly ( J:41878 )

Genotype
MGI:4355066

ht3

• Allelic Composition: Pgap1^oto/Pgap1⁺
• Genetic Background: involves: STOCK In(1)1Rk/J

skeleton

abnormal sternum morphology ( J:41878 )

• 3% of mice exhibit a crankshaft sternum morphology

vertebral transformation ( J:41878 )

• 57% mice exhibit some kind of transformation compared to 18% of wild-type mice

cervical vertebral transformation ( J:41878 )

• 3% of mice exhibit a C2 to C3 transformation

• 10% of mice exhibit C7 to T1 transformation compared with 6% of wild-type mice

lumbar vertebral transformation ( J:41878 )

• 46% of mice exhibit an L6 to S1 transformation compared to 18% of wild-type mice

Genotype
MGI:4355062

ht4

• Allelic Composition: Pgap1^oto/Pgap1^tm1Asp
• Genetic Background: involves: 129 * C57BL/6J * STOCK In(1)1Rk/J

Forebrain defects in Pgap1^oto/Pgap1^oto, Pgap1^oto/Pgap1^tm1Asp, and Pgap1^tm1Asp/Pgap1^tm1Asp embryos

nervous system

abnormal forebrain morphology ( J:151594 )

• mice exhibit similar forebrain defects as observed in Pgap1^oto homozygotes

small embryonic telencephalon ( J:151594 )

vision/eye

anophthalmia ( J:151594 )

• in some mice

Genotype
MGI:4355067

cx5

• Allelic Composition: Lhx1^tm1Bhr/Lhx1⁺; Pgap1^oto/Pgap1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

nervous system

abnormal telencephalon morphology ( J:41878 )

• reduced in 15% mice at E8.5 and E9.5

Genotype
MGI:4355068

cx6

• Allelic Composition: Lhx1^tm1Bhr/Lhx1^tm1Bhr; Pgap1^oto/Pgap1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

embryo

abnormal developmental patterning ( J:41878 )

• some mice lack a well-developed body axis

nervous system

abnormal brain morphology ( J:41878 )

• at E9 to E9.5, anterior truncations are more severe than in Lhx1^tm1Bhr homozygotes

Genotype
MGI:4355069

cx7

• Allelic Composition: Lhx1^tm1Bhr/Lhx1⁺; Pgap1^oto/Pgap1^oto
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

nervous system

abnormal brain morphology ( J:41878 )

• in severely affected mice, anterior central nervous system defects are more severe than in Pgap1^oto homozygotes

abnormal diencephalon morphology ( J:41878 )

• the anterior-ventral diencephalon is hypoplastic

abnormal telencephalon morphology ( J:41878 )

• reduced in 75% mice at E9.5