Search Criteria: Research Area is "Internal/Organ Research: Spleen Defects: asplenic"
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 002771 | B6.129S2-Tlx1tm1Sjk/J | Cryopreserved - Ready for recovery |
| 002273 | B6;129S2-Tlx1tm1Sjk/J | Cryopreserved - Ready for recovery |
| 000209 | B6C3Fe a/a-Dh/J | Cryopreserved - Ready for recovery |
| A spontaneous mutation on chromosome 1 of the dominant hemimelia gene, Dh, causes a defect in the embryonic splanchnic mesoderm and induces congenital absence of the spleen and widespread visceral and skeletal abnormalities. Mice homozygous for the Dh mutation die shortly after birth. Heterozygotes may exhibit tibial hemimelia, polydactyly, and extra fused toes. Rear leg(s) may be held at an odd angle with bent rear ankles. Heterozygotes have enlarged lymph nodes and elevated numbers of circulating lymphocytes, granulocytes and thrombocytes. They show reduced serum IgM and IgG2 and impaired humoral antibody response as well as decreased numbers of lymph node mast cells. The Pde6brd1 allele contributed to this strain by C3FeLe.B6-a causes blindness and is segregating in this strain. | ||
| 000290 | B6C3Fe a/a-Sox10Dom/J | Cryopreserved - Ready for recovery |
| 013634 | C57BL/6J-Dnaic1b2b284Clo/J | Cryopreserved - Ready for recovery |
| This c.240+1G>A Dnaic (dynein, axonemal, intermediate chain 1) recessive mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental ENU mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects including situs inversus totalis and heterotaxy. Congenital heart disease (CHD) is marked by atrioventricular septal defects (AVSD) and transposition of the great arteries (TGA). Hypoplastic spleen and asplenia are also observed. The cilia of the trachea are immotile, but a few show a twitching motion. | ||
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