Phenotypes associated with this allele

• Allele Symbol: Spef2^bgh
• Allele Name: big giant head
• Allele ID: MGI:5295267
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spef2^bgh/Spef2^bgh	involves: 129S6/SvEvTac * C57BL/6J * C57BL/10J	MGI:5295270
hm2	Spef2^bgh/Spef2^bgh	involves: C57BL/6J * C57BL/10J	MGI:5295269

Genotype
MGI:5295270

hm1

• Allelic Composition: Spef2^bgh/Spef2^bgh
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/10J

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

mortality/aging

mortality/aging ( J:176695 )

N • Background Sensitivity: mice exhibit no early mortality unlike on a background lacking 129S6/SvEvTac

reproductive system

reproductive system phenotype ( J:176695 )

♀N • female mice are fertile

abnormal spermatogenesis ( J:176695 )

♂ • mice exhibit a reduction in the number of elongating spermatids in the stage II-V tubules

♂ • however, acrosome formation is normal

abnormal sperm flagellum morphology ( J:176695 )

♂ • short and disorganized

abnormal sperm axoneme morphology ( J:176695 )

♂

abnormal sperm mitochondrial sheath morphology ( J:176695 )

♂ • mitochondria are either absent from the sperm tail or are highly disorganized

abnormal sperm fibrous sheath morphology ( J:176695 )

♂ • fibrous sheath formation is defective

short sperm flagellum ( J:176695 )

♂

oligozoospermia ( J:176695 )

♂ • very few mature sperm are present in the cauda epididymis

male infertility ( J:176695 )

♂

respiratory system

abnormal respiratory motile cilium physiology ( J:176695 )

• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

sinus inflammation ( J:176695 )

nervous system

nervous system phenotype ( J:176695 )

N • Background Sensitivity: mice do not exhibit evidence of gross hydrocephalus unlike on a background lacking 129S6/SvEvTac

immune system

sinus inflammation ( J:176695 )

cellular

abnormal sperm flagellum morphology ( J:176695 )

♂ • short and disorganized

abnormal sperm axoneme morphology ( J:176695 )

♂

abnormal sperm mitochondrial sheath morphology ( J:176695 )

♂ • mitochondria are either absent from the sperm tail or are highly disorganized

abnormal sperm fibrous sheath morphology ( J:176695 )

♂ • fibrous sheath formation is defective

short sperm flagellum ( J:176695 )

♂

oligozoospermia ( J:176695 )

♂ • very few mature sperm are present in the cauda epididymis

abnormal respiratory motile cilium physiology ( J:176695 )

• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:176695

Genotype
MGI:5295269

hm2

• Allelic Composition: Spef2^bgh/Spef2^bgh
• Genetic Background: involves: C57BL/6J * C57BL/10J

mortality/aging

premature death ( J:176695 )

• Background Sensitivity: average age of death is 24.5 days unlike mice on a mixed background

postnatal lethality, incomplete penetrance ( J:176695 )

• Background Sensitivity: some mice a few days after birth or within 1 week due to severe hydrocephalus unlike mice on a mixed background

reproductive system

reproductive system phenotype ( J:176695 )

N • female mice are fertile

male infertility ( J:176695 )

♂

nervous system

abnormal brain morphology ( J:176695 )

• extensive ependymal cell sloughing in the underlying white layer

• however, ependymal cell cilia exhibit normal morphology

hydrocephaly ( J:176695 )

increased brain weight ( J:176695 )

• 2.2 times greater

dilated lateral ventricle ( J:176695 )

gliosis ( J:176695 )

• in the underlying white layer

craniofacial

enlarged neurocranium ( J:176695 )

• enlarged indicating ventricular dilatation

respiratory system

abnormal respiratory motile cilium physiology ( J:176695 )

• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

skeleton

enlarged neurocranium ( J:176695 )

• enlarged indicating ventricular dilatation

cellular

abnormal respiratory motile cilium physiology ( J:176695 )

• the beat frequency of tracheal epithelial cilia is less than in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:176695