Mouse Genome Informatics
hm
    Dpcd/Polltm1Nmt/Dpcd/Polltm1Nmt
involves: 129P2/OlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• homozygotes are obtained at the expected Mendelian ratio at E18.5; however, about 50% of homozygotes die by 3 weeks of age
• homozygotes exhibit a decline in postnatal survival, such that ~70% die by 9 weeks

nervous system
• all homozygotes appear to develop hydrocephalus within the first few days after birth
• starting at P1, a small number of mutant pups exhibit a slight enlargement of the lateral ventricles in the presence of normal cortical neuronal development
• by 4 weeks after birth, homozygotes display severe dilatation of the lateral ventricles in the absence of gross developmental CNS defects
• at 4 weeks, homozygotes show a moderately dilated third ventricle accompanied by ependymal hyperplasia in some mice
• at 4 weeks, some homozygotes display ependymal hyperplasia of the cerebral aqueduct; however, no total obstruction in the cerebrospinal fluid pathway is observed
• at 4 weeks, homozygotes exhibit significantly thinned cerebral cortices
• cilia from the respiratory epithelium and ependymal cell layer of mutant mice fail to adopt a 9+2 microtubule arrangement and lack the inner dynein arms

craniofacial
• by 2 to 4 weeks of age, homozygotes display dome-shaped heads

growth/size
• by 2 to 4 weeks of age, homozygotes display enlarged heads
• at 4 weeks, homozygotes with hydrocephalus exhibit notable growth retardation relative to wild-type littermates
• 5 of 26 homozygotes exhibit situs inversus totalis with reversal of the abdominal organs, heart, lungs, and aorta after removal of the liver

skeleton
• by 2 to 4 weeks of age, homozygotes display dome-shaped heads

reproductive system
• at 7 weeks, the mutant corpus epididymis contains immature sperm with snaggy tails, residual bodies, and basophilic monocuclear cells in the lumen (J:75779)
• at 9 weeks, mutant spermatozoa exhibit truncated and snaggy tails (J:75779)
• at 9 weeks, mutant sperm exhibit round-shaped heads (J:75779)
• no mature spermatids are detected at stage VIII of spermatogenesis; however, the meiotic recombination step in the maturation process of spermatids is unaffected (J:75779)
• mutant males display normal sexual behavior but are sterile as a result of spermatozoal immobility (J:75779)
• mutant spermatozoa exhibit no motility but able to generate offspring by direct injection into oocytes (J:75779)

immune system
• homozygotes develop chronic suppurative sinusitis with accumulation of polymorphonuclear leukocytes in the nasal cavity and inflammatory cell infiltration, consisting of plasma cells and angiogenesis in the submucosal regions of the tunica mucosa olfactoria

respiratory system
• cilia from the respiratory epithelium and ependymal cell layer of mutant mice fail to adopt a 9+2 microtubule arrangement and lack the inner dynein arms
• homozygotes develop chronic suppurative sinusitis with accumulation of polymorphonuclear leukocytes in the nasal cavity and inflammatory cell infiltration, consisting of plasma cells and angiogenesis in the submucosal regions of the tunica mucosa olfactoria

cellular
N
• mutant ES cells show no significant differences in sensitivity to X-ray irradiation, UV irradiation, hydrogen peroxide or methylmethane sulfonate relative to wild-type ES cells (J:75779)
• cilia from the respiratory epithelium and ependymal cell layer of mutant mice fail to adopt a 9+2 microtubule arrangement and lack the inner dynein arms

Mouse Models of Human Disease
OMIM IDRef(s)
Ciliary Dyskinesia, Primary, 1; CILD1 244400 J:75779