Phenotypes Associated with This Genotype

Genotype
MGI:5907679

• Allelic Composition: E330023G01Rik^{Tn(pb-Act-RFP)1.1Zhu}/E330023G01Rik^{Tn(pb-Act-RFP)1.1Zhu}
• Genetic Background: involves: FVB/N

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

mortality/aging

premature death ( J:210665 )

• most mice do not survive to the end of their first month with only 2 of 23 surviving to adulthood

• however, phenotype is rescued by re-mobilization of the transposon

reproductive system

decreased tertiary ovarian follicle number ( J:210665 )

♀

absent tertiary ovarian follicles ( J:210665 )

♀ • at P35

impaired ovarian folliculogenesis ( J:210665 )

♀

small ovary ( J:210665 )

♀ • at P14

uterus hypoplasia ( J:210665 )

♀ • at P14

reduced female fertility ( J:210665 )

♀ • however, phenotype is rescued by re-mobilization of the transposon

craniofacial

abnormal cranium morphology ( J:210665 )

• reduced distance from the infraorbital fissure to the first molar on the basal aspect

• increased distance from the first molar to the most posterior maxilla-palatine suture

abnormal maxillary-premaxillary suture morphology ( J:210665 )

• fused

long lower incisors ( J:210665 )

• overgrown mandibular incisors in 24 of 32 mice at weaning becoming more severe as mice age

• however, phenotype is rescued by re-mobilization of the transposon

malocclusion ( J:210665 )

abnormal maxilla morphology ( J:210665 )

• increased maxillary angle on the lateral aspect

short maxilla ( J:210665 )

• however, phenotype is rescued by re-mobilization of the transposon

abnormal palatine bone horizontal plate morphology ( J:210665 )

• small palatine foramina

midface hypoplasia ( J:210665 )

• recognized at birth and becoming more prominent by 3 weeks of age

• however, phenotype is rescued by re-mobilization of the transposon

vision/eye

abnormal eyelid morphology ( J:210665 )

• periocular hair loss in 6 of 27 mice with bilateral small palpebral fissures

narrow eye opening ( J:210665 )

• bilateral in 27 of 32 mice

• unilateral in 1 of 32 mice

• however, phenotype is rescued by re-mobilization of the transposon

growth/size/body

long lower incisors ( J:210665 )

• overgrown mandibular incisors in 24 of 32 mice at weaning becoming more severe as mice age

• however, phenotype is rescued by re-mobilization of the transposon

malocclusion ( J:210665 )

abnormal palatine bone horizontal plate morphology ( J:210665 )

• small palatine foramina

midface hypoplasia ( J:210665 )

• recognized at birth and becoming more prominent by 3 weeks of age

• however, phenotype is rescued by re-mobilization of the transposon

decreased body weight ( J:210665 )

• one third lighter at P21

weight loss ( J:210665 )

• mice begin to lose weight at P17

endocrine/exocrine glands

decreased tertiary ovarian follicle number ( J:210665 )

♀

absent tertiary ovarian follicles ( J:210665 )

♀ • at P35

impaired ovarian folliculogenesis ( J:210665 )

♀

small ovary ( J:210665 )

♀ • at P14

digestive/alimentary system

abnormal palatine bone horizontal plate morphology ( J:210665 )

• small palatine foramina

skeleton

abnormal cranium morphology ( J:210665 )

• reduced distance from the infraorbital fissure to the first molar on the basal aspect

• increased distance from the first molar to the most posterior maxilla-palatine suture

abnormal maxillary-premaxillary suture morphology ( J:210665 )

• fused

long lower incisors ( J:210665 )

• overgrown mandibular incisors in 24 of 32 mice at weaning becoming more severe as mice age

• however, phenotype is rescued by re-mobilization of the transposon

malocclusion ( J:210665 )

abnormal maxilla morphology ( J:210665 )

• increased maxillary angle on the lateral aspect

short maxilla ( J:210665 )

• however, phenotype is rescued by re-mobilization of the transposon

abnormal palatine bone horizontal plate morphology ( J:210665 )

• small palatine foramina

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
blepharophimosis, ptosis, and epicanthus inversus syndrome		DOID:14778	OMIM:110100	J:210665