Phenotypes associated with this allele

• Allele Symbol: Mbtd1^tm1Homy
• Allele Name: targeted mutation 1, Hiroaki Honda
• Allele ID: MGI:4940055
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mbtd1^tm1Homy/Mbtd1^tm1Homy	B6.Cg-Ptprc^a Mbtd1^tm1Homy	MGI:4940065

Genotype
MGI:4940065

hm1

• Allelic Composition: Mbtd1^tm1Homy/Mbtd1^tm1Homy
• Genetic Background: B6.Cg-Ptprc^a Mbtd1^tm1Homy

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:169112 )

• homozygotes are present at near expected numbers at E17.5

• most homozygotes are dead within a half a day of birth

• all are dead by 1.5 days of age with no obvious pathology

skeleton

abnormal skeleton morphology ( J:169112 )

• poor skeletal development at E14.5 and E17.5

abnormal lambdoid suture morphology ( J:169112 )

• short lambdoid suture at E17.5

abnormal interparietal bone morphology ( J:169112 )

• flattened shape at E17.5

flat occipital bone ( J:169112 )

• flattened shape at E17.5

occipital bone hypoplasia ( J:169112 )

• poorly developed occipital bone

abnormal thoracic cage morphology ( J:169112 )

rib bifurcation ( J:169112 )

rib fusion ( J:169112 )

abnormal vertebral column morphology ( J:169112 )

• misalignment of the spinal column

abnormal costovertebral joint morphology ( J:169112 )

• examples of multiple ribs attaching to one thoracic vertebrum

abnormal spine curvature ( J:169112 )

abnormal cervical vertebrae morphology ( J:169112 )

abnormal cervical atlas morphology ( J:169112 )

• poorly formed

abnormal cervical axis morphology ( J:169112 )

• poorly formed

cervical vertebral fusion ( J:169112 )

• C1 to C2 fusions sometimes

• C1 to C3 fusions sometimes

liver/biliary system

abnormal liver development ( J:169112 )

• fetal liver significantly smaller than control livers at E14.5 but not at E18.5

• two fold reduction in fetal liver cell number

liver hypoplasia ( J:169112 )

• fetal liver significantly smaller than control livers at E14.5 but not at E18.5

• two fold reduction in fetal liver cell number

hematopoietic system

decreased hematopoietic stem cell number ( J:169112 )

• fetal liver with significantly fewer hematopoietic colony forming units in culture at E14.5 but not at E18.5

craniofacial

abnormal lambdoid suture morphology ( J:169112 )

• short lambdoid suture at E17.5

abnormal interparietal bone morphology ( J:169112 )

• flattened shape at E17.5

flat occipital bone ( J:169112 )

• flattened shape at E17.5

occipital bone hypoplasia ( J:169112 )

• poorly developed occipital bone