Phenotypes associated with this allele

• Allele Symbol: Pou1f1^dw
• Allele Name: dwarf
• Allele ID: MGI:1856024
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pou1f1^dw/Pou1f1^dw	DW/J Pou1f1^dw	MGI:3653405
hm2	Pou1f1^dw/Pou1f1^dw	Not Specified	MGI:3653204
ht3	Pou1f1^dw/Pou1f1^dw-J	(DW/J x C3H/HeJ)F1	MGI:3702015
cx4	Mdwh/Mdwh Pou1f1^dw/Pou1f1^dw	involves: CAST/EiJ * DW/J	MGI:5514270

Genotype
MGI:3653405

hm1

• Allelic Composition: Pou1f1^dw/Pou1f1^dw
• Genetic Background: DW/J Pou1f1^dw

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

mortality/aging

extended life span ( J:73731 )

• lifespan of female mice housed with normal-sized control females (caretakers) is increased by 50% (872 days) over median life span (579 days) of controls

• lifespan of male mice housed with control males is reduced by 6%, however, when transferred to female caretakers the two oldest males lived 24% longer than controls

hematopoietic system

decreased B cell number ( J:110683 )

• the frequency of B lineage cells is significantly reduced

• treatment with T4 restores B lineage deficiency

• myelopoiesis and thymopoiesis were normal

immune system

decreased B cell number ( J:110683 )

• the frequency of B lineage cells is significantly reduced

• treatment with T4 restores B lineage deficiency

• myelopoiesis and thymopoiesis were normal

endocrine/exocrine glands

increased pituitary gland apoptosis ( J:108961 )

• at 1 day of age a slight increase in apoptosis in the pituitary is found

• however, no increase in apoptosis is observed at 8 days of age

abnormal adenohypophysis morphology ( J:108961 )

• at 8 days of age there are fewer actively dividing cells in the pituitary but no abnormal increase in apoptosis

absent lactotrophs ( J:7211 )

absent somatotrophs ( J:7211 )

adenohypophysis hypoplasia ( J:108961 )

• although normal size and morphology at 1 day of age, the pituitary is smaller than normal by 11 days of age due to reduced growth of the anterior lobes

nervous system

increased pituitary gland apoptosis ( J:108961 )

• at 1 day of age a slight increase in apoptosis in the pituitary is found

• however, no increase in apoptosis is observed at 8 days of age

abnormal adenohypophysis morphology ( J:108961 )

• at 8 days of age there are fewer actively dividing cells in the pituitary but no abnormal increase in apoptosis

absent lactotrophs ( J:7211 )

absent somatotrophs ( J:7211 )

adenohypophysis hypoplasia ( J:108961 )

• although normal size and morphology at 1 day of age, the pituitary is smaller than normal by 11 days of age due to reduced growth of the anterior lobes

growth/size/body

decreased body size ( J:108961 )

• although homozygotes are the same size as control littermates at birth, they begin to be smaller at 2 weeks of age, are noticably smaller by 3 weeks of age, and are only one third to one quarter the size of normal littermates as adults

cellular

increased pituitary gland apoptosis ( J:108961 )

• at 1 day of age a slight increase in apoptosis in the pituitary is found

• however, no increase in apoptosis is observed at 8 days of age

Genotype
MGI:3653204

hm2

• Allelic Composition: Pou1f1^dw/Pou1f1^dw
• Genetic Background: Not Specified

growth/size/body

abnormal molar root morphology ( J:13120 )

• mutants have normal molar crowns but reduced roots

proportional dwarf ( J:13120 )

• mature individuals are only one fourth the weight of their normal sibs

• reduced size begins after 14th day

skeleton

abnormal molar root morphology ( J:13120 )

• mutants have normal molar crowns but reduced roots

hearing/vestibular/ear

abnormal cochlear outer hair cell morphology ( J:144823 )

• the repeated pattern of outer hair cells in P14 and P25 mutants is disrupted

• mean surface area of outer hair cells is reduced by about 15%

abnormal orientation of outer hair cell stereociliary bundles ( J:144823 )

• the orientation of the outer hair cell bundles in P14 and P25 mutants is disrupted

cochlear outer hair cell degeneration ( J:144823 )

• mice exhibit a small fraction of outer hair cell degeneration by P42 along the cochlea, although most outer hair cells survive

• the most prominent hair cell loss is in the lower apical region

short cochlear outer hair cells ( J:144823 )

• outer hair cells are about 24% shorter than in wild-type mice

abnormal Hensen stripe morphology ( J:144823 )

• the tectorial membrane has a more prominent Hensen's stripe that persists through P42

abnormal pillar cell morphology ( J:144823 )

• organization of the cytoskeleton is abnormal in pillar cells at P25 which persists through P42

abnormal tunnel of Corti morphology ( J:144823 )

• delay in the opening of the tunnel of Corti at P12, but by P21, the opening is indistinguishable from wild-type mice

abnormal stria vascularis morphology ( J:144823 )

• stria is smaller in width at P21 and P42, due to reduced contribution of intermediate cells

• abnormalities in the stria vascularis are more obvious at P42 than at P12 or P21

• stria vascularis shows less interdigitation of the intermediate cells with the basal aspect of the marginal cells and less infolding of the basolateral membrane

• accumulation of dark lipofuscin-like deposits in the stria vacularis of P42 old mutants

abnormal strial intermediate cell morphology ( J:144823 )

• deterioration of the intermediate cells

abnormal tectorial membrane morphology ( J:144823 )

• the tectorial membrane contains an abnormal protrusion at P21 which appears to be a more prominent Hensens stripe that persists through P42

abnormal tectorial membrane striated-sheet matrix morphology ( J:144823 )

• abnormalities in the structure of the striated-sheet matrix in the tectorial membrane

decreased endocochlear potential ( J:144823 )

• 50% and 45% reduction in endocochlear potential in 3 and 6 week old mice, respectively

abnormal hair cell physiology ( J:144823 )

• mutant outer hair cells have varying mixtures of low- and high-voltage activated conductances compared to wild-type cells which have a dominant low-voltage activated KCNQ4 current and a reduction in KCNQ4 currents

absent cochlear microphonics ( J:144823 )

• adult mutants lack cochlear microphonics, indicating compromised outer hair cell function

• lack of a cochlear microphonics response is indicated by the absence of a frequency-dependent phase shift

absent distortion product otoacoustic emissions ( J:144823 )

• adult mutants lack DPOAE, indicating compromised outer hair cell function

deafness ( J:144823 )

pigmentation

abnormal strial intermediate cell morphology ( J:144823 )

• deterioration of the intermediate cells

reproductive system

infertility ( J:13120 )

• both males and females are entirely sterile

homeostasis/metabolism

decreased growth hormone level ( J:6589 )

• GH was undetectable from birth to 6 weeks of age

decreased prolactin level ( J:6589 )

• PRL was undetectable from birth to 6 weeks of age

decreased circulating prolactin level ( J:6754 )

• minimal concentrations of PRL were detected in the plasma

endocrine/exocrine glands

absent lactotrophs ( J:6754 )

• PRL-producing mammotropes were absent

absent somatotrophs ( J:7211 )

• GH-producing somatotropes were absent

decreased thyrotroph cell number ( J:12161 )

• almost complete absence of TSH-producing thyrotroph

nervous system

absent lactotrophs ( J:6754 )

• PRL-producing mammotropes were absent

absent somatotrophs ( J:7211 )

• GH-producing somatotropes were absent

decreased thyrotroph cell number ( J:12161 )

• almost complete absence of TSH-producing thyrotroph

abnormal cochlear outer hair cell morphology ( J:144823 )

• the repeated pattern of outer hair cells in P14 and P25 mutants is disrupted

• mean surface area of outer hair cells is reduced by about 15%

abnormal orientation of outer hair cell stereociliary bundles ( J:144823 )

• the orientation of the outer hair cell bundles in P14 and P25 mutants is disrupted

cochlear outer hair cell degeneration ( J:144823 )

• mice exhibit a small fraction of outer hair cell degeneration by P42 along the cochlea, although most outer hair cells survive

• the most prominent hair cell loss is in the lower apical region

short cochlear outer hair cells ( J:144823 )

• outer hair cells are about 24% shorter than in wild-type mice

abnormal hair cell physiology ( J:144823 )

• mutant outer hair cells have varying mixtures of low- and high-voltage activated conductances compared to wild-type cells which have a dominant low-voltage activated KCNQ4 current and a reduction in KCNQ4 currents

absent cochlear microphonics ( J:144823 )

• adult mutants lack cochlear microphonics, indicating compromised outer hair cell function

• lack of a cochlear microphonics response is indicated by the absence of a frequency-dependent phase shift

craniofacial

abnormal molar root morphology ( J:13120 )

• mutants have normal molar crowns but reduced roots

cellular

abnormal actin cytoskeleton morphology ( J:144823 )

• organization of the actin cytoskeleton is abnormal in pillar cells at P25 through P42, as shown by FITC-phalloidin staining

Genotype
MGI:3702015

ht3

• Allelic Composition: Pou1f1^dw/Pou1f1^dw-J
• Genetic Background: (DW/J x C3H/HeJ)F1

mortality/aging

extended life span ( J:73731 )

• lifespan of female mice housed with normal-sized control females (caretakers) is increased by 50% (1231 days) over median life span (814 days) of controls

• lifespan of male mice housed with normal-sized control females (caretakers) is increased by 29% (1068 days) over median life span (827 days) of controls

Genotype
MGI:5514270

cx4

• Allelic Composition: Mdwh/Mdwh; Pou1f1^dw/Pou1f1^dw
• Genetic Background: involves: CAST/EiJ * DW/J

hearing/vestibular/ear

decreased threshold for auditory brainstem response ( J:177740 )

• ABR thresholds for click responses are 72.8 db as compared to 84.8 db for Mdwh heterozygotes and 97.8 for homozygous Mdwh⁺ controls

• ABR thresholds for 8 kHz signals are 72.4 db as compared to 81.6 db for Mdwh heterozygotes and 95.9 db for homozygous Mdwh⁺ controls

• ABR thresholds for 16 kHz signals are 51.6 db as compared to 64.3 db for Mdwh heterozygotes and 84.3 db for homozygous Mdwh⁺ controls

• ABR thresholds for 32 kHz signals are 75.2 db as compared to 87.1 db for Mdwh heterozygotes and 97.9 db for homozygous Mdwh⁺ controls