Phenotypes associated with this allele

• Allele Symbol: Fanci^tm1.1Itl
• Allele Name: targeted mutation 1.1, inGenious Targeting Laboratory
• Allele ID: MGI:6394228
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fanci^tm1.1Itl/Fanci^tm1.1Itl	involves: C57BL/6J * CBA	MGI:6828595
cx2	Fancd2^Gt(OST57859)Lex/Fancd2^Gt(OST57859)Lex Fanci^tm1.1Itl/Fanci^tm1.1Itl	involves: 129S5/SvEvBrd * C57BL/6J * CBA	MGI:6828597

Genotype
MGI:6828595

hm1

• Allelic Composition: Fanci^tm1.1Itl/Fanci^tm1.1Itl
• Genetic Background: involves: C57BL/6J * CBA

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

mortality/aging

embryonic lethality, incomplete penetrance ( J:285384 )

• fewer than expected mice are recovered

reproductive system

absent gametes ( J:285384 )

• no mature gametes in female or male mice

azoospermia ( J:285384 )

♂ • no spermatocytes are produced

small gonad ( J:285384 )

• in male and female mice

female infertility ( J:285384 )

♂

male infertility ( J:285384 )

♂

hematopoietic system

thrombocytopenia ( J:285384 )

abnormal hematopoietic precursor cell morphology ( J:285384 )

• reduced monopotent to multipotent myeloid colony forming cells

decreased granulocyte monocyte progenitor cell number ( J:285384 )

decreased hematopoietic stem cell number ( J:285384 )

• at 6 to 9 months of age

abnormal hematopoietic stem cell physiology ( J:285384 )

skeleton

malocclusion ( J:285384 )

fused phalanges ( J:285384 )

• at low frequency

vision/eye

abnormal lens development ( J:285384 )

abnormal retina development ( J:285384 )

microphthalmia ( J:285384 )

growth/size/body

malocclusion ( J:285384 )

decreased birth body size ( J:285384 )

decreased body size ( J:285384 )

• at 2 weeks of age

decreased body weight ( J:285384 )

• in male and female mice

limbs/digits/tail

fused phalanges ( J:285384 )

• at low frequency

abnormal pollex morphology ( J:285384 )

• occasionally duplicated

cellular

absent gametes ( J:285384 )

• no mature gametes in female or male mice

azoospermia ( J:285384 )

♂ • no spermatocytes are produced

increased cellular sensitivity to DNA damaging agents ( J:285384 )

• in mitomycin C-treated mouse embryonic fibroblasts

• bone marrow hematopoietic progenitor cells are hypersensitive to mitomycin C compared with wild-type cells

early cellular replicative senescence ( J:285384 )

• in mouse embryonic fibroblasts

abnormal fibroblast physiology ( J:285384 )

• mouse embryonic fibroblasts exhibit growth retardation and replicative senescence unlike control cells

induced chromosome breakage ( J:285384 )

• following mitomycin C treatment in mouse embryonic fibroblasts

spontaneous chromosome breakage ( J:285384 )

• spontaneous chromosome breakage and quadriradial chromosome formation in mouse embryonic fibroblasts

craniofacial

abnormal craniofacial morphology ( J:285384 )

malocclusion ( J:285384 )

Genotype
MGI:6828597

cx2

• Allelic Composition: Fancd2^{Gt(OST57859)Lex}/Fancd2^{Gt(OST57859)Lex}; Fanci^tm1.1Itl/Fanci^tm1.1Itl
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J * CBA

mortality/aging

prenatal lethality, incomplete penetrance ( J:285384 )

• fewer than expected mice are born

hematopoietic system

abnormal bone marrow cell morphology/development ( J:285384 )

• reduced colony forming unit cells as in single knock-outs

thrombocytopenia ( J:285384 )

• as in single knock-outs

decreased hematopoietic stem cell number ( J:285384 )

• worse than in single knock-outs