Phenotypes Associated with This Genotype

Genotype
MGI:2677318

• Allelic Composition: Recql4^tm1Abe/Recql4^tm1Abe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:85574 )

• approximately 40% died immediately after birth

• 80% of the remaining mice died within 2 days of birth

postnatal lethality, incomplete penetrance ( J:85574 )

• approximately 95% died within 2 weeks of birth

pigmentation

absent coat pigmentation ( J:85574 )

• colorless hair observed in 65% of mice

craniofacial

growth retardation of incisors ( J:85574 )

growth retardation of molars ( J:85574 )

digestive/alimentary system

abnormal small intestine morphology ( J:85574 )

• reduced size of villi

growth/size/body

growth retardation of incisors ( J:85574 )

growth retardation of molars ( J:85574 )

decreased body size ( J:85574 )

decreased body weight ( J:85574 )

• 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

postnatal growth retardation ( J:85574 )

hematopoietic system

abnormal thymus corticomedullary boundary morphology ( J:85574 )

• poorly defined cortical-medullary boundary

small thymus ( J:85574 )

• the ratio of T cells did not statistically differ from those observed in wild-type thymi

decreased spleen white pulp amount ( J:85574 )

• while the overall size of the spleen was normal, the white pulp areas were smaller and decreased in number

immune system

abnormal thymus corticomedullary boundary morphology ( J:85574 )

• poorly defined cortical-medullary boundary

small thymus ( J:85574 )

• the ratio of T cells did not statistically differ from those observed in wild-type thymi

decreased spleen white pulp amount ( J:85574 )

• while the overall size of the spleen was normal, the white pulp areas were smaller and decreased in number

skeleton

growth retardation of incisors ( J:85574 )

growth retardation of molars ( J:85574 )

abnormal long bone metaphysis morphology ( J:85574 )

• fewer trabeculas in the metaphyseal regions

vision/eye

vision/eye phenotype ( J:85574 )

N • though human patients present with cataracts, none were observed in mice

integument

absent coat pigmentation ( J:85574 )

• colorless hair observed in 65% of mice

alopecia ( J:85574 )

• hair loss eventually encompassed ~20% of the whole body surface

• 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

skin lesions ( J:85574 )

• erosion of skin in areas of hair loss

endocrine/exocrine glands

abnormal thymus corticomedullary boundary morphology ( J:85574 )

• poorly defined cortical-medullary boundary

small thymus ( J:85574 )

• the ratio of T cells did not statistically differ from those observed in wild-type thymi

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rothmund-Thomson syndrome		DOID:2732	OMIM:268400	J:85574