Phenotypes associated with this allele

• Allele Symbol: Cdc14a^{tm1d(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1d, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:5779859
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cdc14a^tm1d(EUCOMM)Hmgu/Cdc14a^tm1d(EUCOMM)Hmgu	involves: C57BL/6N * FVB	MGI:6694867

Genotype
MGI:6694867

hm1

• Allelic Composition: Cdc14a^{tm1d(EUCOMM)Hmgu}/Cdc14a^{tm1d(EUCOMM)Hmgu}
• Genetic Background: involves: C57BL/6N * FVB
• Cell Lines: HEPD0623_4_G09

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:257652 )

hearing/vestibular/ear

fused inner hair cell stereocilia ( J:257652 )

• some stereocilia of IHCs fuse to one another by P17

fused outer hair cell stereocilia ( J:257652 )

• some stereocilia of OHCs fuse to one another by P17

cochlear hair cell degeneration ( J:257652 )

• marked hair cell loss at P90 in the apical and basal turns of the organ of Corti with inner hair cell (IHC) degeneration preceding OHC loss

• progressive HC degeneration parallels partial conservation of hearing at P16-P30

cochlear inner hair cell degeneration ( J:257652 )

• 5% of IHCs in the apical turn degenerate by P17

• 50% of IHCs are missing in the apical turn at P90

cochlear outer hair cell degeneration ( J:257652 )

• 5% of OHCs in the apical turn degenerate by P17; at this stage DPOAEs are absent indicating that OHCs are not functional

• 50% of OHCs are missing in the apical turn at P90

increased or absent threshold for auditory brainstem response ( J:257652 )

• rare homozygotes exhibit only residual hearing at low frequencies (8 and 16 kHz) at P16, as determined by ABR thresholds

absent distortion product otoacoustic emissions ( J:257652 )

• mice exhibit absent DPOAEs at all ages tested (P16, P30, P60 and P90), indicating loss of outer hair cell (OHC) function as early as P16

• however, endocochlear potentials remain normal indicating that stria vascularis function is unaffected

deafness ( J:257652 )

• hearing loss progresses to profound deafness at all frequencies by P90

sensorineural hearing loss ( J:257652 )

• rare homozygotes show progressive loss of hearing

reproductive system

reproductive system phenotype ( J:257652 )

♀N • homozygous mutant deaf females are fertile and produce many litters of healthy pups

oligozoospermia ( J:257652 )

♂ • epididymal sperm count is significantly reduced in infertile males

teratozoospermia ( J:257652 )

♂ • increased number of abnormal sperm with excessive fragmentation

seminiferous tubule degeneration ( J:257652 )

♂ • infertile males show seminiferous tubule degeneration, primarily subcapsular and near the rete testis

♂ • degeneration is characterized by vacuolization of the epithelium

male infertility ( J:257652 )

♂ • two surviving deaf males failed to produce progeny when mated repeatedly with proven fertile wild-type C57BL/6 females over a 2- to 5-month period

nervous system

fused inner hair cell stereocilia ( J:257652 )

• some stereocilia of IHCs fuse to one another by P17

fused outer hair cell stereocilia ( J:257652 )

• some stereocilia of OHCs fuse to one another by P17

cochlear hair cell degeneration ( J:257652 )

• marked hair cell loss at P90 in the apical and basal turns of the organ of Corti with inner hair cell (IHC) degeneration preceding OHC loss

• progressive HC degeneration parallels partial conservation of hearing at P16-P30

cochlear inner hair cell degeneration ( J:257652 )

• 5% of IHCs in the apical turn degenerate by P17

• 50% of IHCs are missing in the apical turn at P90

cochlear outer hair cell degeneration ( J:257652 )

• 5% of OHCs in the apical turn degenerate by P17; at this stage DPOAEs are absent indicating that OHCs are not functional

• 50% of OHCs are missing in the apical turn at P90

cellular

oligozoospermia ( J:257652 )

♂ • epididymal sperm count is significantly reduced in infertile males

teratozoospermia ( J:257652 )

♂ • increased number of abnormal sperm with excessive fragmentation

endocrine/exocrine glands

seminiferous tubule degeneration ( J:257652 )

♂ • infertile males show seminiferous tubule degeneration, primarily subcapsular and near the rete testis

♂ • degeneration is characterized by vacuolization of the epithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 32		DOID:0110491	OMIM:608653	J:257652