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Phenotypes Associated with This Genotype
Genotype
MGI:2677318
Allelic
Composition
Recql4tm1Abe/Recql4tm1Abe
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Recql4tm1Abe mutation (0 available); any Recql4 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• approximately 40% died immediately after birth (J:85574)
• 80% of the remaining mice died within 2 days of birth (J:85574)
• approximately 40% died immediately after birth (J:85574)
• 80% of the remaining mice died within 2 days of birth (J:85574)
• approximately 95% died within 2 weeks of birth (J:85574)
• approximately 95% died within 2 weeks of birth (J:85574)

pigmentation
• colorless hair observed in 65% of mice (J:85574)
• colorless hair observed in 65% of mice (J:85574)

craniofacial

digestive/alimentary system
• reduced size of villi (J:85574)
• reduced size of villi (J:85574)

growth/size/body
• neonatal body weight reduced by approximately 40% relative to littermates (J:85574)
• body weight reduced by approximately 50% and 66% at 4 and 10 weeks, respectively, relative to littermates (J:85574)
• neonatal body weight reduced by approximately 40% relative to littermates (J:85574)
• body weight reduced by approximately 50% and 66% at 4 and 10 weeks, respectively, relative to littermates (J:85574)

hematopoietic system
• poorly defined cortical-medullary boundary (J:85574)
• poorly defined cortical-medullary boundary (J:85574)
• the ratio of T cells did not statistically differ from those observed in wild-type thymi (J:85574)
• the ratio of T cells did not statistically differ from those observed in wild-type thymi (J:85574)
• while the overall size of the spleen was normal, the white pulp areas were smaller and decreased in number (J:85574)
• while the overall size of the spleen was normal, the white pulp areas were smaller and decreased in number (J:85574)

immune system
• poorly defined cortical-medullary boundary (J:85574)
• poorly defined cortical-medullary boundary (J:85574)
• the ratio of T cells did not statistically differ from those observed in wild-type thymi (J:85574)
• the ratio of T cells did not statistically differ from those observed in wild-type thymi (J:85574)
• while the overall size of the spleen was normal, the white pulp areas were smaller and decreased in number (J:85574)
• while the overall size of the spleen was normal, the white pulp areas were smaller and decreased in number (J:85574)

skeleton
• fewer trabeculas in the metaphyseal regions (J:85574)
• fewer trabeculas in the metaphyseal regions (J:85574)

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

integument
• colorless hair observed in 65% of mice (J:85574)
• colorless hair observed in 65% of mice (J:85574)
• 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 (J:85574)
• hair loss eventually encompassed ~20% of the whole body surface (J:85574)
• 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 (J:85574)
• hair loss eventually encompassed ~20% of the whole body surface (J:85574)
• erosion of skin in areas of hair loss (J:85574)
• erosion of skin in areas of hair loss (J:85574)

endocrine/exocrine glands
• poorly defined cortical-medullary boundary (J:85574)
• poorly defined cortical-medullary boundary (J:85574)
• the ratio of T cells did not statistically differ from those observed in wild-type thymi (J:85574)
• the ratio of T cells did not statistically differ from those observed in wild-type thymi (J:85574)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory