Phenotypes associated with this allele

• Allele Symbol: Ebf2^tm1.1Ggc
• Allele Name: targeted mutation 1.1, Giacomo Consalez
• Allele ID: MGI:2446576
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ebf2^tm1.1Ggc/Ebf2^tm1.1Ggc	involves: 129S2/SvPas * C57BL/6J	MGI:3820241
hm2	Ebf2^tm1.1Ggc/Ebf2^tm1.1Ggc	involves: 129S2/SvPas * C57BL/6J * FVB/N	MGI:3820242

Genotype
MGI:3820241

hm1

• Allelic Composition: Ebf2^tm1.1Ggc/Ebf2^tm1.1Ggc
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

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

growth/size/body

decreased body weight ( J:104946 )

• weight reduced 43% at 3 weeks of age

postnatal growth retardation ( J:104946 )

• size reduced 22% at 3 weeks of age

skeleton

abnormal long bone morphology ( J:104946 )

short tibia ( J:104946 )

• length reduced about 19% at 3 weeks

abnormal long bone epiphyseal plate morphology ( J:104946 )

• width of growth plates is reduced

abnormal bone structure ( J:104946 )

• 47% of bone surface is covered by osteoclasts

decreased femur compact bone thickness ( J:104946 )

• cortical thickness reduced 65% in the femur at mid shaft

• osteoclastic endocortical bone resorption occurring

decreased bone mineral density ( J:104946 )

• involving both cancellous and cortical bone

decreased bone mineral density of femur ( J:104946 )

• femur density reduced 40%

abnormal trabecular bone morphology ( J:104946 )

• area reduced

• trabecular bone area of the tibia is reduced 49%

decreased bone strength ( J:104946 )

• 3 fold reduction in strength as measured by bending tests

adipose tissue

abnormal fat cell morphology ( J:104946 )

• increased numbers of adipocytes

limbs/digits/tail

decreased femur compact bone thickness ( J:104946 )

• cortical thickness reduced 65% in the femur at mid shaft

• osteoclastic endocortical bone resorption occurring

short tibia ( J:104946 )

• length reduced about 19% at 3 weeks

Genotype
MGI:3820242

hm2

• Allelic Composition: Ebf2^tm1.1Ggc/Ebf2^tm1.1Ggc
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/N

nervous system

abnormal cerebellum morphology ( J:110576 )

• hemispheres are malformed

decreased Purkinje cell number ( J:110576 )

• 38% reduction in number

• normal migration is disrupted

abnormal cerebellum anterior vermis morphology ( J:110576 )

• lobules II, III, IV, V are hypotrophic

• lobules VIb, VII, VIII are reduced

• lobule IX is malformed

• lobules VIa and X are normal

small cerebellum ( J:110576 )

• reduced in all dimensions