Phenotypes associated with this allele

• Allele Symbol: Pfdn5^nmf5a
• Allele Name: neuroscience mutagenesis facility 5a
• Allele ID: MGI:4867864
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pfdn5^nmf5a/Pfdn5^nmf5a	C57BL/6-Pfdn5^nmf5a	MGI:4868202

Genotype
MGI:4868202

hm1

• Allelic Composition: Pfdn5^nmf5a/Pfdn5^nmf5a
• Genetic Background: C57BL/6-Pfdn5^nmf5a

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

mortality/aging

premature death ( J:167349 )

• in some mice, hydroencephaly results in premature death

pregnancy-related premature death ( J:167349 )

• female mice often die in labor

early reproductive senescence ( J:167349 )

• reproductive span of female mice is half that of wild-type mice

reproductive system

reproductive system phenotype ( J:167349 )

N • female mice are fertile

necrospermia ( J:167349 )

♂ • spermatogonia, spermocytes, and spermatids in the seminiferous tubules exhibit atrophy and are reduced in number compared to in wild-type mice

oligozoospermia ( J:167349 )

♂ • spermatogonia, spermocytes, and spermatids in the seminiferous tubules exhibit atrophy and are reduced in number compared to in wild-type mice

small testis ( J:167349 )

♂

early reproductive senescence ( J:167349 )

• reproductive span of female mice is half that of wild-type mice

male infertility ( J:167349 )

♂

nervous system

abnormal brain ependyma motile cilium morphology ( J:167349 )

• ventricles exhibit disorganized and reduced numbers of cilia compared to in wild-type mice

decreased brain ependyma motile cilium number ( J:167349 )

hydrocephaly ( J:167349 )

• in some mice between birth and P112 in varying severities that result in premature death

decreased brain weight ( J:167349 )

• at P56

abnormal choroid plexus morphology ( J:167349 )

• ependymal cells undergo apoptosis unlike in wild-type mice

dilated third ventricle ( J:167349 )

decreased Purkinje cell number ( J:167349 )

• at 5 months, mice exhibit Purkinje cell death, more profoundly in the rostral region of the cerebellum, unlike wild-type cells

small cerebellum ( J:167349 )

abnormal retina photoreceptor morphology ( J:167349 )

• cells within the inner and outer segments exhibit reduced microtubules and microfilaments compared with cells in wild-type mice

short photoreceptor inner segment ( J:167349 )

abnormal photoreceptor outer segment morphology ( J:167349 )

• at P14.5, the outer segment is severely fragmented, disorganized, and diminished in length and number compared with wild-type mice

• however, the outer segment has normal laminar appearance at P42

short photoreceptor outer segment ( J:167349 )

• at P14.5 and P42

disorganized photoreceptor outer segment ( J:167349 )

• at P14.5

retina photoreceptor degeneration ( J:167349 )

• panretinally at P12.5 and P39.5

abnormal nervous system physiology ( J:167349 )

• ependymal cilia exhibit reduced ciliary beating compared to in wild-type mice

vision/eye

abnormal retina apoptosis ( J:167349 )

• at P13.5, mice exhibit photoreceptor apoptosis unlike wild-type mice

• however, no abnormal apoptosis is detected at P42

abnormal retina morphology ( J:167349 )

• at P28.5, mice exhibit a very subtle depigmented, yellowing, granular fundus appearance compared with wild-type mice

abnormal retina photoreceptor morphology ( J:167349 )

• cells within the inner and outer segments exhibit reduced microtubules and microfilaments compared with cells in wild-type mice

short photoreceptor inner segment ( J:167349 )

abnormal photoreceptor outer segment morphology ( J:167349 )

• at P14.5, the outer segment is severely fragmented, disorganized, and diminished in length and number compared with wild-type mice

• however, the outer segment has normal laminar appearance at P42

short photoreceptor outer segment ( J:167349 )

• at P14.5 and P42

disorganized photoreceptor outer segment ( J:167349 )

• at P14.5

retina photoreceptor degeneration ( J:167349 )

• panretinally at P12.5 and P39.5

thin retina inner nuclear layer ( J:167349 )

thin retina outer nuclear layer ( J:167349 )

abnormal retina outer limiting membrane morphology ( J:167349 )

• attenuated as early as P8.5

abnormal eye electrophysiology ( J:167349 )

• electroretinograms revealed a reduction in a- and b-waves in dark and light adapted mice compared with wild-type mice

behavior/neurological

ataxia ( J:167349 )

• at 5 months of age

endocrine/exocrine glands

small testis ( J:167349 )

♂

cellular

abnormal brain ependyma motile cilium morphology ( J:167349 )

• ventricles exhibit disorganized and reduced numbers of cilia compared to in wild-type mice

decreased brain ependyma motile cilium number ( J:167349 )

necrospermia ( J:167349 )

♂ • spermatogonia, spermocytes, and spermatids in the seminiferous tubules exhibit atrophy and are reduced in number compared to in wild-type mice

oligozoospermia ( J:167349 )

♂ • spermatogonia, spermocytes, and spermatids in the seminiferous tubules exhibit atrophy and are reduced in number compared to in wild-type mice

abnormal retina apoptosis ( J:167349 )

• at P13.5, mice exhibit photoreceptor apoptosis unlike wild-type mice

• however, no abnormal apoptosis is detected at P42