Phenotypes Associated with This Genotype

Genotype
MGI:8318826

• Allelic Composition: Fancl^em1Anjde/Fancl^em1Anjde
• Genetic Background: C57BL/6-Fancl^em1Anjde

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

cardiovascular system

myocardial fiber degeneration ( J:379197 )

• focal cardiomyocyte degeneration

cellular

cellular phenotype ( J:379197 )

N • increased sensitivity to differentiation-induced transcriptional stress during cellular reprogramming in myeloid cells in vitro

N • reduced DNA damage repair in myeloid cells in vitro

absent oocytes ( J:379197 )

♀

azoospermia ( J:379197 )

♂

craniofacial

deviated nasal septum ( J:379197 )

abnormal olfactory epithelium morphology ( J:379197 )

• atrophy

hematopoietic system

hematopoietic system phenotype ( J:379197 )

N • normal hematocrit at age 18 months

hyperchromasia ( J:379197 )

• 2x increase in retained micronuclei in peripheral blood cells at age 18 months

decreased hematopoietic stem cell number ( J:379197 )

• reduced number of LSK+ and progenitor cells in E14.5 fetal liver

• reduced number of LSK+ cells in bone marrow at age 12 weeks, progressively worsening to age 18 months

abnormal reticulocyte morphology ( J:379197 )

• 2x increase in retained micronuclei in peripheral blood cells at age 18 months

embryo

decreased embryo size ( J:379197 )

• at stage E14.5

endocrine/exocrine glands

abnormal mammary gland duct morphology ( J:379197 )

♀ • thinner duct epithelium

decreased endometrial gland number ( J:379197 )

♀

ovary hypoplasia ( J:379197 )

♀

decreased testis weight ( J:379197 )

♂ • 80-90% reduction

growth/size/body

deviated nasal septum ( J:379197 )

abnormal olfactory epithelium morphology ( J:379197 )

• atrophy

decreased embryo size ( J:379197 )

• at stage E14.5

integument

abnormal mammary gland duct morphology ( J:379197 )

♀ • thinner duct epithelium

mortality/aging

decreased survivor rate ( J:379197 )

• 15% of mice born die by age 6 weeks

• survivors have normal lifespan

lethality during fetal growth through weaning ( J:379197 )

• fewer than 9% homozygous live pups at weaning stage

• ~14% homozygous embryos mid-gestation

muscle

myocardial fiber degeneration ( J:379197 )

• focal cardiomyocyte degeneration

reproductive system

absent oocytes ( J:379197 )

♀

azoospermia ( J:379197 )

♂

ovary hypoplasia ( J:379197 )

♀

decreased testis weight ( J:379197 )

♂ • 80-90% reduction

abnormal uterus morphology ( J:379197 )

♀ • malformed uterus

decreased endometrial gland number ( J:379197 )

♀

thin myometrium ( J:379197 )

♀

female infertility ( J:379197 )

♀

male infertility ( J:379197 )

♂

respiratory system

deviated nasal septum ( J:379197 )

abnormal olfactory epithelium morphology ( J:379197 )

• atrophy

taste/olfaction

abnormal olfactory epithelium morphology ( J:379197 )

• atrophy

vision/eye

microphthalmia ( J:379197 )

• one or both eyes, in surviving mice

anophthalmia ( J:379197 )

• one or both eyes, in surviving mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fanconi anemia		DOID:13636	OMIM:PS227650	J:379197