Brain development in hydrocephalic-polydactyl, a recessive pleiotropic mutant in the mouse

Bryan, John H. D.; Hughes, Rebecca L.; Bates, Timothy

doi:10.1007/bf00427115

Cited by 23 publications

(11 citation statements)

References 7 publications

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“…Yet another localization of the cilia is the ependymal cell layer lining the lateral, third, and fourth ventricles [Bryan et al, 1977]. PCD with hydrocephalus with or without situs abnormalities (PCD with hydrocephalus) has been described in three sporadic cases [Greenstone et al, 1984;De Santi et al, 1990;Picco et al, 1993] and in three families [al-Shroof et al, 2001;Wessels et al, 2003].…”

Section: Introductionmentioning

confidence: 98%

Absent inner dynein arms in a fetus with familial hydrocephalus‐situs abnormality

Kosaki

Ikeda

Miyakoshi

et al. 2004

American J of Med Genetics Pt A

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We report a family in which a healthy, unrelated couple had a male fetus with bilateral ventriculomegaly, a normal liveborn girl, a hydatidiform molar pregnancy, a female fetus with ventriculomegaly and situs abnormalities, and a male fetus with hydrocephalus, a three-lobed left lung, and defective tracheal cilia with absent inner dynein arms and a single centriole. A mutation analysis of FOXJ1 and POLL in the last fetus with ciliary defect revealed no mutation within their coding regions. The presence of three affected fetuses of both sexes in a family with phenotypically normal parents suggests that the condition was inherited as an autosomal recessive trait. A thorough evaluation of the thoracic and abdominal situs is recommended before counseling a family of a child with hydrocephalus, because the recognition of situs defects may point to the diagnosis of primary ciliary defect and recurrence risk of 25% for siblings. This figure is much higher than the general risk of 1-2% for siblings of a patient with isolated hydrocephalus.

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Section: Introductionmentioning

confidence: 98%

Absent inner dynein arms in a fetus with familial hydrocephalus‐situs abnormality

Kosaki

Ikeda

Miyakoshi

et al. 2004

American J of Med Genetics Pt A

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“…Hydrocephalus has arisen by spontaneous mutation several times in laboratory mice and rats (e.g. Gruneberg, 1943;Borit & Sidman, 1972;Bryan, Hughes & Bates, 1977;D'Amato et al, 1986;Jones, Dack & Ellis, 1987). The H-Tx rat originated from a colony in Texas where occasional deaths had been Correspondence to: Dr H. C. Jones (Kohn, Chinookoswong & Chou, 1981).…”

Section: Introductionmentioning

confidence: 99%

INHERITED PRENATAL HYDROCEPHALUS IN THE H–Tx RAT: A MORPHOLOGICAL STUDY

Jones

Bucknall

1988

Neuropathology Appl Neurobio

116

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The H-Tx rat has inherited hydrocephalus which is present at birth. In order to investigate the onset and early stages of hydrocephalus, the heads of fetuses from 16 to 21 days gestation and at 1 day after birth, were serially sectioned using conventional wax histology. Lateral and third ventricle volumes were measured with a graphics tablet and microcomputer. Hydrocephalus was first detected at 18-20 days gestation by enlarged lateral ventricles and it was sometimes accompanied by a large third ventricle. Most hydrocephalics had a non-patent cerebral aqueduct between the third ventricle and the posterior collicular recess and the remainder (about 25%) had an aqueduct which was patent but with a smaller lumen than in non-hydrocephalic littermates. Some fetuses prior to 18 days gestation with normal lateral ventricles also had non-patent aqueducts. Abnormal aqueducts were lined by ependymal cells which were ventrally displaced by thickening of the overlying midbrain; also the subcommissural organ was foreshortened. Infusion with fluorescent markers confirmed that the flow pathway through the aqueduct was obstructed in many hydrocephalic rats. It is concluded that the hydrocephalus may be the result of abnormal brain development in the midline region of the dorsal mesencephalon, leading to aqueduct closure.

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“…Mutants show preaxial polydactyly. Homozygous animals develop a non-obstructive hydrocephalus with an extensive damage of ependymal cells (Bryan et al 1977). In addition, the mutants exhibit the characteristic ''hopping'' gait, using the hind legs simultaneously (Johnson and Hunt 1971).…”

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confidence: 99%

Reduced activity of BRAF protein kinase in hop and hop hpy mouse mutants

et al. 1998

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Recent advances in genetic mapping and gene targeting have facilitated the identification of molecular defects for several classic mouse mutants (for example, Balling et al. 1988;D'Arcangelo et al. 1995;Nehls et al. 1994). Two interesting mouse mutants that still await molecular identification are hop and hpy. These are allelic variants (Handel et al. 1985), designated hop (hop-sterile) and hop hpy (hydrocephalic-polydactyl), of a gene localized on mouse Chromosome (Chr) 6 at 13.0 cM (Lyon 1973). Hop hpy was found in 1964 among descendants of mice exposed to ionizing radiation (Hollander 1976), while hop was identified in 1967 as a spontaneous mutation (Johnson and Hunt 1971). The affected tissues are skeleton, brain, and testes. Mutants show preaxial polydactyly. Homozygous animals develop a non-obstructive hydrocephalus with an extensive damage of ependymal cells (Bryan et al. 1977). In addition, the mutants exhibit the characteristic ''hopping'' gait, using the hind legs simultaneously (Johnson and Hunt 1971). Male mutant homozygotes are sterile, whereas female are fertile. In the testis, defective spermatid tail formation has been described, and sperm with tails are absent from the lumen of the testicular tubules. The second meiotic division can be incomplete, resulting in the presence of binucleate spermatids (Johnson and Hunt 1971).Braf, a member of the mammalian Raf family of serine/ threonine kinases (Daum et al. 1994), has been mapped to Chr 6 at 15.5 cM, i.e., in the vicinity of hop. The highest levels of Braf expression are observed in the central nervous system and in the testes (Barnier et al. 1995;Storm et al. 1990). In the central nervous system, BRAF is detected as several protein species of different molecular weights, indicating complex control of its expression and splicing (Barnier et al. 1995). In the testis, expression of Braf undergoes similarly tight spatial and temporal control. Braf expression is restricted to germ line cells with a 4.0-kbp transcript first expressed at low levels in pachytene spermatocytes, and a more abundant 2.6-kbp transcript restricted to post-meiotic spermatids (Wadewitz et al. 1993). In comparison with brain and testes, other tissues exhibit much lower levels of Braf expression (Barnier et al. 1995;Storm et al. 1990). Since the major sites of Braf expression (that is, brain and the germ cells of the testes) are the affected tissues in hop mutants, we set out to determine whether Braf function is altered in hop or hop hpy mice.Total RNA isolated from frozen testes of hop +/? (wild type or unaffected heterozygote), hop/+, hop/hop and hop/hop hpy mice was analyzed on Northern blots with a Braf-specific cDNA probe. The physiological Braf transcripts (2.6 and 4.0 kbp) were detected in all samples analyzed, and no aberrant Braf transcripts were found in the mutant testes (Fig. 1A). To quantitate the Braf expression levels, all data were digitized and analyzed with NIH Image. The variation in the expression levels of Braf transcripts among the samples did not exceed 10%,...

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Brain development in hydrocephalic-polydactyl, a recessive pleiotropic mutant in the mouse

Cited by 23 publications

References 7 publications

Absent inner dynein arms in a fetus with familial hydrocephalus‐situs abnormality

Absent inner dynein arms in a fetus with familial hydrocephalus‐situs abnormality

INHERITED PRENATAL HYDROCEPHALUS IN THE H–Tx RAT: A MORPHOLOGICAL STUDY

Reduced activity of BRAF protein kinase in hop and hop hpy mouse mutants

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