Phenotypes associated with this allele

• Allele Symbol: Nipbl^tm1.2Hpt
• Allele Name: targeted mutation 1.2, Heiko Peters
• Allele ID: MGI:5636687
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nipbl^tm1.2Hpt/Nipbl^tm1.2Hpt	involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL	MGI:5698651
ht2	Nipbl^tm1.2Hpt/Nipbl^+	involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL	MGI:5698644

Genotype
MGI:5698651

hm1

• Allelic Composition: Nipbl^tm1.2Hpt/Nipbl^tm1.2Hpt
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:213338 )

• heterozygous intercrosses fail to yield homozygous mutant embryos at E9.5 or later

Genotype
MGI:5698644

ht2

• Allelic Composition: Nipbl^tm1.2Hpt/Nipbl⁺
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

growth/size/body

decreased birth body size ( J:213338 )

• newborn heterozygotes appear smaller than wild-type controls

decreased body size ( J:213338 )

• after weaning, heterozygotes are significantly smaller than wild-type controls

decreased body weight ( J:213338 )

• at 3 to 8 weeks of age, heterozygotes fed ad libitum consistently weigh less than wild-type controls

decreased fetal weight ( J:213338 )

• at E18.5, the body weight of heterozygotes is reduced by 18.5% relative to that of wild-type controls

skeleton

abnormal skeleton morphology ( J:213338 )

• newborn heterozygotes display various skeletal abnormalities

abnormal neurocranium morphology ( J:213338 )

• newborn heterozygotes display open calvarial foramen

short humerus ( J:213338 )

short radius ( J:213338 )

abnormal rib morphology ( J:213338 )

• newborn heterozygotes exhibit formation of bilateral (4/6) or unilateral (2/6) stunted 14th ribs

abnormal sternum ossification ( J:213338 )

• 6 of 12 newborn heterozygotes exhibit misalignment of ossification centers in the sternum

delayed bone ossification ( J:213338 )

• newborn heterozygotes exhibit delayed ossification in the phalangeal bones

craniofacial

abnormal neurocranium morphology ( J:213338 )

• newborn heterozygotes display open calvarial foramen

limbs/digits/tail

short humerus ( J:213338 )

short radius ( J:213338 )