Mouse Genome Informatics
hm
    Recql4tm1Abe/Recql4tm1Abe
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• approximately 40% died immediately after birth
• 80% of the remaining mice died within 2 days of birth
• approximately 95% died within 2 weeks of birth

pigmentation
• colorless hair observed in 65% of mice

craniofacial

digestive/alimentary system
• reduced size of villi

growth/size/body
• neonatal body weight reduced by approximately 40% relative to littermates
• body weight reduced by approximately 50% and 66% at 4 and 10 weeks, respectively, relative to littermates

hematopoietic system
• poorly defined cortical-medullary boundary
• the ratio of T cells did not statistically differ from those observed in wild-type thymi
• while the overall size of the spleen was normal, the white pulp areas were smaller and decreased in number

immune system
• poorly defined cortical-medullary boundary
• the ratio of T cells did not statistically differ from those observed in wild-type thymi
• while the overall size of the spleen was normal, the white pulp areas were smaller and decreased in number

skeleton
• fewer trabeculas in the metaphyseal regions

vision/eye
N
• though human patients present with cataracts, none were observed in mice (J:85574)

integument
• colorless hair observed in 65% of mice
• although mice initially developed a normal coat, spontaneous hair loss was observed on the neck, back, and behind the forelegs around 6 weeks of age
• hair loss eventually encompassed ~20% of the whole body surface
• erosion of skin in areas of hair loss

endocrine/exocrine glands
• poorly defined cortical-medullary boundary
• the ratio of T cells did not statistically differ from those observed in wild-type thymi

Mouse Models of Human Disease
OMIM IDRef(s)
Rothmund-Thomson Syndrome; RTS 268400 J:85574