Phenotypes associated with this allele

• Allele Symbol: Enkd1^em1Jzho
• Allele Name: endonuclease-mediated mutation 1, Jun Zhou
• Allele ID: MGI:7328569
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Enkd1^em1Jzho/Enkd1^em1Jzho	C57BL/6J-Enkd1^em1Jzho	MGI:7328585

Genotype
MGI:7328585

hm1

• Allelic Composition: Enkd1^em1Jzho/Enkd1^em1Jzho
• Genetic Background: C57BL/6J-Enkd1^em1Jzho

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

cellular

abnormal cilium morphology ( J:326906 )

• mouse embryonic fibroblasts (MEFs) exhibit ciliogenesis defects with reduced percentage of ciliated cells but no effect on ciliary length

absent sperm flagellum ( J:326906 )

• males show an increase in the number of aberrant spermatozoa with no tails

• however, flagellated sperm that do exist maintain normal flagellar length and show normal motility and male fertility is unaffected

abnormal kidney epithelial cell primary cilium morphology ( J:326906 )

• mice show a decrease in the number of renal primary cilia

• however, average ciliary length is normal

abnormal photoreceptor connecting cilium morphology ( J:326906 )

• number of retinal photoreceptor cilia is decreased

• however, length of existing cilia is not significantly affected

cardiovascular system

shortened QRS complex duration ( J:326906 )

• surface electrocardiography (ECG) shows a modest reduction in QRS duration

abnormal R wave ( J:326906 )

• surface electrocardiography (ECG) shows reduced average R-wave duration

nervous system

abnormal photoreceptor connecting cilium morphology ( J:326906 )

• number of retinal photoreceptor cilia is decreased

• however, length of existing cilia is not significantly affected

renal/urinary system

abnormal kidney epithelial cell primary cilium morphology ( J:326906 )

• mice show a decrease in the number of renal primary cilia

• however, average ciliary length is normal

reproductive system

absent sperm flagellum ( J:326906 )

• males show an increase in the number of aberrant spermatozoa with no tails

• however, flagellated sperm that do exist maintain normal flagellar length and show normal motility and male fertility is unaffected

respiratory system

abnormal tracheal ciliated epithelium morphology ( J:326906 )

• mice show a reduction in the percentage of ciliated cells in the tracheal epithelium

vision/eye

abnormal photoreceptor connecting cilium morphology ( J:326906 )

• number of retinal photoreceptor cilia is decreased

• however, length of existing cilia is not significantly affected

decreased a-wave amplitude ( J:326906 )

• electroretinogram analysis of light response from dark-adapted mice shows reduction in the amplitude of the a-wave

decreased b-wave amplitude ( J:326906 )

• electroretinogram analysis of light response from dark-adapted mice shows reduction in the amplitude of the b-wave

abnormal visual evoked potential ( J:326906 )

• flash visual evoked potential components show reduced voltage amplitude

abnormal vision ( J:326906 )

• mice exhibit defective vision